W13G (p.Trp13Gly) variant of CFH (Complement factor H)
W13G (p.Trp13Gly) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
W13G (p.Trp13Gly) variant details
- p.Trp13Gly
- rs1200969813
- gnomAD 1-196652154-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.23
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available