A30S (p.Ala30Ser) variant of KEAP1 (Q14145)
A30S (p.Ala30Ser) in KEAP1 (Q14145) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- ExAC rs537634437
- TOPMed rs537634437
- gnomAD rs537634437
- Missense
- Variant Prioritization Score for Impact Estimate 0.0595
- REVEL 0.04
- CADD 1.20
- PolyPhen-2 0.01
- SIFT 0.76
- Population evidence available
- Structural context available