A24V (p.Ala24Val) variant of EGFR (Epidermal growth factor receptor)
A24V (p.Ala24Val) 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 0.33 / 1. The record also includes population frequency data and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- gnomAD rs1786374464
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.20
- MetaLR 0.32
- MetaSVM -0.59
- CADD 20.30
- PolyPhen-2 0.07
- SIFT 0.61
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available