G28E (p.Gly28Glu) variant of KEAP1 (Q14145)
G28E (p.Gly28Glu) 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.
G28E (p.Gly28Glu) variant details
- p.Gly28Glu
- TOPMed rs1271014988
- gnomAD rs1271014988
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.12
- CADD 18.40
- PolyPhen-2 0.08
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available