L12S (p.Leu12Ser) variant of CFH (Complement factor H)
L12S (p.Leu12Ser) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L12S (p.Leu12Ser) variant details
- p.Leu12Ser
- gnomAD 1-196652152-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.11
- CADD 23.20
- PolyPhen-2 0.87
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available