A24G (p.Ala24Gly) variant of EGFR (Epidermal growth factor receptor)
A24G (p.Ala24Gly) 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.
A24G (p.Ala24Gly) variant details
- p.Ala24Gly
- gnomAD rs1786374464
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.19
- MetaLR 0.35
- MetaSVM -0.54
- CADD 20.90
- PolyPhen-2 0.09
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available