K51T (p.Lys51Thr) variant of CFH (Complement factor H)
K51T (p.Lys51Thr) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K51T (p.Lys51Thr) variant details
- p.Lys51Thr
- gnomAD 1-196673071-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.42
- CADD 23.20
- PolyPhen-2 0.86
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available