W13R (p.Trp13Arg) variant of CFH (Complement factor H)
W13R (p.Trp13Arg) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
W13R (p.Trp13Arg) variant details
- p.Trp13Arg
- gnomAD 1-196652154-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.26
- CADD 25.10
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available