A14P (p.Ala14Pro) variant of CFH (Complement factor H)
A14P (p.Ala14Pro) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- rs1285086946
- gnomAD 1-196652157-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.12
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available