L74R (p.Leu74Arg) variant of CFH (Complement factor H)
L74R (p.Leu74Arg) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L74R (p.Leu74Arg) variant details
- p.Leu74Arg
- gnomAD 1-196673140-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.26
- CADD 20.40
- PolyPhen-2 0.81
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available