V12M (p.Val12Met) variant of FGFR2 (P21802)
V12M (p.Val12Met) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Acrocephalosyndactyly type I; Gastric cancer; Jackson-Weiss syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V12M (p.Val12Met) variant details
- p.Val12Met
- rs143978938
- ClinGen CA159665
- cosmic curated COSV60653
- ClinVar RCV000121061
- Conflicting interpretations
- Acrocephalosyndactyly type I; Gastric cancer; Jackson-Weiss syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.24
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Acrocephalosyndactyly type I; Gastric cancer; Jackson-Weiss synd)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)
- Cited in: Apert Syndrome. (PMID 31145570)