A13A (p.Ala13Ala) variant of EGFR (Epidermal growth factor receptor)
A13A (p.Ala13Ala) in EGFR (Epidermal growth factor receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A13A (p.Ala13Ala) variant details
- p.Ala13Ala
- rs1010599071
- gnomAD 7-55019316-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 10.90
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available