S36F (p.Ser36Phe) variant of CFH (Complement factor H)
S36F (p.Ser36Phe) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S36F (p.Ser36Phe) variant details
- p.Ser36Phe
- rs1424121446
- gnomAD 1-196673026-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.27
- CADD 22.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available