A73V (p.Ala73Val) variant of CFH (Complement factor H)
A73V (p.Ala73Val) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A73V (p.Ala73Val) variant details
- p.Ala73Val
- rs1431540496
- gnomAD 1-196673137-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.24
- CADD 22.70
- PolyPhen-2 0.94
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available