A17V (p.Ala17Val) variant of EGFR (Epidermal growth factor receptor)
A17V (p.Ala17Val) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- cosmic curated COSV51792
- TOPMed rs1180577495
- gnomAD rs1180577495
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.08
- MetaLR 0.30
- MetaSVM -0.89
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available