R83S (p.Arg83Ser) variant of CFH (Complement factor H)
R83S (p.Arg83Ser) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R83S (p.Arg83Ser) variant details
- p.Arg83Ser
- gnomAD 1-196673861-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.64
- CADD 15.50
- PolyPhen-2 0.02
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available