G11A (p.Gly11Ala) variant of KEAP1 (Q14145)
G11A (p.Gly11Ala) in KEAP1 (Q14145) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G11A (p.Gly11Ala) variant details
- p.Gly11Ala
- Ensembl rs956532438
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.09
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available