A17T (p.Ala17Thr) variant of EGFR (Epidermal growth factor receptor)
A17T (p.Ala17Thr) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- gnomAD 7-55019326-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.11
- MetaLR 0.32
- MetaSVM -0.85
- CADD 7.96
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available