E9A (p.Glu9Ala) variant of RAD51C (O43502)
E9A (p.Glu9Ala) in RAD51C (O43502) is a missense 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.
E9A (p.Glu9Ala) variant details
- p.Glu9Ala
- gnomAD 17-58692669-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.14
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available