A40V (p.Ala40Val) variant of KEAP1 (Q14145)
A40V (p.Ala40Val) in KEAP1 (Q14145) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- cosmic curated COSV50278
- TOPMed rs1173824866
- gnomAD rs1173824866
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.27
- CADD 26.50
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available