A30T (p.Ala30Thr) variant of KEAP1 (Q14145)
A30T (p.Ala30Thr) in KEAP1 (Q14145) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- cosmic curated COSV50262
- ExAC rs537634437
- TOPMed rs537634437
- gnomAD rs537634437
- Missense
- Variant Prioritization Score for Impact Estimate 0.0914
- REVEL 0.08
- CADD 5.24
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available