Q2H (p.Gln2His) variant of KEAP1 (Q14145)
Q2H (p.Gln2His) in KEAP1 (Q14145) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q2H (p.Gln2His) variant details
- p.Gln2His
- Ensembl rs2144631748
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.16
- CADD 19.40
- PolyPhen-2 0.14
- SIFT 0.09
- Population evidence available
- Structural context available