A34T (p.Ala34Thr) variant of KEAP1 (Q14145)
A34T (p.Ala34Thr) in KEAP1 (Q14145) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- cosmic curated COSV50281
- ESP rs372654184
- ExAC rs372654184
- TOPMed rs372654184
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.12
- CADD 22.10
- PolyPhen-2 0.18
- SIFT 0.14
- Most common in the Amish population (allele frequency 0.043)
- Structural context available