Is KANK2 p.Val755= (c.2265C>G) pathogenic?

KANK2 p.Val755= (c.2265C>G) is classified Likely benign in KANK2 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-09-05). Absent from gnomAD v4.1.

How common is KANK2 p.Val755= (c.2265C>G) in the general population?

KANK2 p.Val755= (c.2265C>G) is absent from gnomAD v4.1 (gnomAD).

KANK2 p.Val755=

c.2265C>G · rs2512569264 · VCV2107106

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

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 0.76	GERP -2.8, phastCons 0.99
Overall
CADD	3.982	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: KANK2
Protein: p.Val755=
Coding: c.2265C>G
MANE Select: NM_001136191
dbSNP: rs2512569264
Type: single nucleotide variant
Location: chr19:11170195 (GRCh38)
Gene constraint: LOEUF 0.704 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 60.58 · 3 PDB
Residue 755: the 'interaction with ncoa1' region; an α-helix

Full KANK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

KANK2 p.Ala182Val Uncertain significance ★★ ⚠ same type
KANK2 p.Ala317Val Uncertain significance ★★ ⚠ same type
KANK2 p.Ala347Thr Uncertain significance ★★ ⚠ same type
KANK2 p.Ala351Thr Uncertain significance ★★ ⚠ same type
KANK2 p.Ala393Gly Uncertain significance ★★ ⚠ same type
KANK2 p.Ala653Val Uncertain significance ★★ ⚠ same type
KANK2 p.Ala711Val Uncertain significance ★★ same type
KANK2 p.Arg105His 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/kank2-p-val755 (accessed [today's date]).

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