V65A (p.Val65Ala) variant of CFH (Complement factor H)
V65A (p.Val65Ala) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
V65A (p.Val65Ala) variant details
- p.Val65Ala
- gnomAD 1-196673113-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0716
- REVEL 0.08
- CADD 0.02
- PolyPhen-2 0.28
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available