Is ULK2 p.Tyr795= (c.2385C>T) pathogenic?

ULK2 p.Tyr795= (c.2385C>T) is classified Benign in ULK2 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2019-12-31). Common (popmax 7.74%, afr) — too common for a highly-penetrant pathogenic allele.

ULK2 p.Tyr795=

Q: How common is ULK2 p.Tyr795= (c.2385C>T) in the general population?

ULK2 p.Tyr795= (c.2385C>T) is common (popmax 7.74%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.2385C>T · rs56296267 · VCV777152

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Common

common (popmax 7.74%, afr) — too common for a highly-penetrant pathogenic allele

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP -1.6	GERP -3.1
Overall
CADD	3.192	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 7.74% African / African-American · 5,765/74,526 alleles

Filtering AF 7.57% ClinGen BA1/BS1 input FAF95, joint · FAF99 7.5%

Overall 0.528% 8,465/1,601,922 alleles · common exomes 4,867/1,449,622 · genomes 3,598/152,300 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	7.74%	13
Middle Eastern	2.22%	45
Ashkenazi Jewishnot grpmax-eligible	0.875%	114
Remaining individualsnot grpmax-eligible	0.831%	120
Admixed American	0.722%	138
South Asian	0.681%	147
European (non-Finnish)	0.0653%	1,533
East Asian	0.00226%	44,246
Finnishnot grpmax-eligible	0.00156%	63,938

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: ULK2
Protein: p.Tyr795=
Coding: c.2385C>T
MANE Select: NM_014683
dbSNP: rs56296267
Type: single nucleotide variant
Location: chr17:19783772 (GRCh38)
Gene constraint: LOEUF 0.766 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 60.32 · 5 PDB

Full ULK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ULK2 p.Arg881Gln Benign ★★ same type
ULK2 p.Gly5= Benign ★★ same type
ULK2 p.Lys539= Benign ★★ same type
ULK2 p.His578Arg Likely pathogenic ★ ⚠ same type
ULK2 p.Ala1034Thr Uncertain significance ★ ⚠ same type
ULK2 p.Ala264Glu Uncertain significance ★ ⚠ same type
ULK2 p.Ala264Val Uncertain significance ★ ⚠ same type
ULK2 p.Ala421Thr Uncertain significance ★ ⚠ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ulk2-p-tyr795 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown