S58A (p.Ser58Ala) variant of CFH (Complement factor H)
S58A (p.Ser58Ala) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S58A (p.Ser58Ala) variant details
- p.Ser58Ala
- rs141336681
- gnomAD 1-196673091-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.10
- CADD 19.00
- PolyPhen-2 0.19
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available