S36Y (p.Ser36Tyr) variant of CFH (Complement factor H)
S36Y (p.Ser36Tyr) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S36Y (p.Ser36Tyr) variant details
- p.Ser36Tyr
- gnomAD 1-196673026-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.28
- CADD 22.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available