Y42F (p.Tyr42Phe) variant of CFH (Complement factor H)
Y42F (p.Tyr42Phe) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Y42F (p.Tyr42Phe) variant details
- p.Tyr42Phe
- rs182750499
- gnomAD 1-196673044-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.36
- CADD 22.00
- PolyPhen-2 1.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available