N29K (p.Asn29Lys) variant of CFH (Complement factor H)
N29K (p.Asn29Lys) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
N29K (p.Asn29Lys) variant details
- p.Asn29Lys
- gnomAD 1-196673006-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.11
- CADD 10.30
- PolyPhen-2 0.47
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available