V65I (p.Val65Ile) variant of CFH (Complement factor H)
V65I (p.Val65Ile) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
V65I (p.Val65Ile) variant details
- p.Val65Ile
- rs747978546
- gnomAD 1-196673112-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0572
- REVEL 0.06
- CADD 0.16
- PolyPhen-2 0.02
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available