Y42D (p.Tyr42Asp) variant of CFH (Complement factor H)
Y42D (p.Tyr42Asp) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Y42D (p.Tyr42Asp) variant details
- p.Tyr42Asp
- gnomAD 1-196673043-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.49
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available