A9V (p.Ala9Val) variant of EGFR (Epidermal growth factor receptor)
A9V (p.Ala9Val) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- TOPMed rs1583835979
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.17
- MetaLR 0.34
- MetaSVM -0.79
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available