A14V (p.Ala14Val) variant of CFH (Complement factor H)
A14V (p.Ala14Val) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs749713710
- gnomAD 1-196652158-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.07
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available