A18T (p.Ala18Thr) variant of CFH (Complement factor H)
A18T (p.Ala18Thr) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD 1-196652169-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.09
- CADD 26.40
- PolyPhen-2 0.49
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available