A10V (p.Ala10Val) variant of EGFR (Epidermal growth factor receptor)
A10V (p.Ala10Val) in EGFR (Epidermal growth factor receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- TOPMed rs1217714114
- gnomAD rs1217714114
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.17
- MetaLR 0.35
- MetaSVM -0.91
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 9.7e-05)
- Structural context available