A73P (p.Ala73Pro) variant of CFH (Complement factor H)
A73P (p.Ala73Pro) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A73P (p.Ala73Pro) variant details
- p.Ala73Pro
- gnomAD 1-196673136-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.23
- CADD 1.51
- PolyPhen-2 0.99
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available