V65G (p.Val65Gly) variant of CFH (Complement factor H)
V65G (p.Val65Gly) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V65G (p.Val65Gly) variant details
- p.Val65Gly
- gnomAD 1-196673113-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.20
- CADD 6.01
- PolyPhen-2 0.54
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available