K68Q (p.Lys68Gln) variant of CFH (Complement factor H)
K68Q (p.Lys68Gln) 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.
K68Q (p.Lys68Gln) variant details
- p.Lys68Gln
- rs1667339290
- gnomAD 1-196673121-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.063
- REVEL 0.04
- CADD 3.75
- PolyPhen-2 0.27
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available