A10T (p.Ala10Thr) variant of KEAP1 (Q14145)
A10T (p.Ala10Thr) in KEAP1 (Q14145) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- ExAC rs757488752
- TOPMed rs757488752
- gnomAD rs757488752
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.09
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the Ashkenazi Jewish population (allele frequency 0.0014)
- Structural context available