P54R (p.Pro54Arg) variant of CFH (Complement factor H)
P54R (p.Pro54Arg) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P54R (p.Pro54Arg) variant details
- p.Pro54Arg
- gnomAD 1-196673080-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.41
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available