KSR2 p.Pro237=
c.711G>C · rs749850024 · VCV3061588
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.163%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Overall | ||
| CADD | 1.601 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.163%
Middle Eastern · 7/4,304 alleles
Filtering AF
0.0763%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0541%
Overall
0.000991%
15/1,513,052 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.163% | 615 |
| African / African-American | 0.00279% | 35,815 |
| Admixed American | 0.00231% | 43,258 |
| Finnishnot grpmax-eligible | 0.00175% | 57,062 |
| Remaining individualsnot grpmax-eligible | 0.00172% | 58,206 |
| European (non-Finnish) | 0.000264% | 378,455 |
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
- KSR2
- Protein
- p.Pro237=
- Coding
- c.711G>C
- MANE Select
- NM_173598
- dbSNP
- rs749850024
- Type
- single nucleotide variant
- Location
- chr12:117761286 (GRCh38)
- Gene constraint
- LOEUF 0.318 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 61.22 · 9 PDB
Similar variants
- KSR2 p.Ala540Val Uncertain significance ★★ ⚠ same type
- KSR2 p.Ala588Val Uncertain significance ★★ ⚠ same type
- KSR2 p.Arg463Gln Uncertain significance ★★ ⚠ same type
- KSR2 p.Arg647His Uncertain significance ★★ ⚠ same type
- KSR2 p.Arg745Gln Uncertain significance ★★ ⚠ same type
- KSR2 p.Asn480Ser Uncertain significance ★★ same type
- KSR2 p.Cys141Arg Uncertain significance ★★ ⚠ same type
- KSR2 p.Gln665His 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/ksr2-p-pro237 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown