T30S (p.Thr30Ser) variant of CFH (Complement factor H)
T30S (p.Thr30Ser) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T30S (p.Thr30Ser) variant details
- p.Thr30Ser
- gnomAD 1-196673007-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.03
- CADD 1.08
- PolyPhen-2 0.54
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available