I63T (p.Ile63Thr) variant of CFH (Complement factor H)
I63T (p.Ile63Thr) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
I63T (p.Ile63Thr) variant details
- p.Ile63Thr
- gnomAD 1-196673107-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0637
- REVEL 0.04
- CADD 4.26
- PolyPhen-2 0.01
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available