N75T (p.Asn75Thr) variant of CFH (Complement factor H)
N75T (p.Asn75Thr) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N75T (p.Asn75Thr) variant details
- p.Asn75Thr
- gnomAD 1-196673143-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.30
- CADD 19.00
- PolyPhen-2 1.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available