KSR2 p.Val751=
c.2253G>A · rs377194435 · VCV3037928
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.244%, 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 0.035 | GERP -3.1, phastCons 0.81 |
| Overall | ||
| CADD | 1.309 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.244%
African / African-American · 183/75,040 alleles
Filtering AF
0.215%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.204%
Overall
0.0128%
207/1,613,624 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.244% | 410 |
| Admixed American | 0.0183% | 5,456 |
| Middle Eastern | 0.0165% | 6,060 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,495 |
| European (non-Finnish) | 0.000593% | 168,512 |
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.Val751=
- Coding
- c.2253G>A
- MANE Select
- NM_173598
- dbSNP
- rs377194435
- Type
- single nucleotide variant
- Location
- chr12:117485658 (GRCh38)
- Gene constraint
- LOEUF 0.318 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 61.22 · 9 PDB
- Residue 751
- the protein kinase domain; an α-helix
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-val751 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown