ULK3 p.Pro177=
c.531C>G · rs35249396 · VCV774943
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.84%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -11 | GERP -4.4 |
| Overall | ||
| CADD | 0.155 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.84%
African / African-American · 2,124/74,664 alleles
Filtering AF
2.74%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.7%
Overall
0.152%
2,443/1,608,834 alleles · low-frequency
exomes 1,166/1,456,588 · genomes 1,277/152,246 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.84% | 35 |
| Admixed American | 0.208% | 480 |
| Remaining individualsnot grpmax-eligible | 0.177% | 565 |
| Middle Eastern | 0.149% | 670 |
| European (non-Finnish) | 0.00636% | 15,711 |
| East Asian | 0.00223% | 44,844 |
| Finnishnot grpmax-eligible | 0.00158% | 63,396 |
| South Asian | 0.0011% | 90,574 |
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
- ULK3
- Protein
- p.Pro177=
- Coding
- c.531C>G
- MANE Select
- NM_001099436
- dbSNP
- rs35249396
- Type
- single nucleotide variant
- Location
- chr15:74840580 (GRCh38)
- Gene constraint
- LOEUF 1.161 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.96 · 3 PDB
- Residue 177
- the protein kinase domain; a turn
Similar variants
- ULK3 p.Arg101His Benign ★★ same type
- ULK3 p.Ser468= Benign ★★ same type
- ULK3 p.Ala114Val Uncertain significance ★ ⚠ same type
- ULK3 p.Ala192Thr Uncertain significance ★ ⚠ same type
- ULK3 p.Ala26Thr Uncertain significance ★ ⚠ same type
- ULK3 p.Ala286Val Uncertain significance ★ ⚠ same type
- ULK3 p.Ala303Thr Uncertain significance ★ ⚠ same type
- ULK3 p.Ala378Thr 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/ulk3-p-pro177 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown