G86E (p.Gly86Glu) variant of CFH (Complement factor H)
G86E (p.Gly86Glu) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G86E (p.Gly86Glu) variant details
- p.Gly86Glu
- rs1317403430
- gnomAD 1-196673869-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.38
- MetaLR 0.35
- MetaSVM -0.50
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available