A30V (p.Ala30Val) variant of KEAP1 (Q14145)
A30V (p.Ala30Val) in KEAP1 (Q14145) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- rs138428670
- ClinGen CA9195702
- ClinVar RCV004155751
- ESP rs138428670
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.10
- CADD 14.00
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available