I32N (p.Ile32Asn) variant of CFH (Complement factor H)
I32N (p.Ile32Asn) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
I32N (p.Ile32Asn) variant details
- p.Ile32Asn
- gnomAD 1-196673014-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.45
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available