A30E (p.Ala30Glu) variant of KEAP1 (Q14145)
A30E (p.Ala30Glu) in KEAP1 (Q14145) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A30E (p.Ala30Glu) variant details
- p.Ala30Glu
- ESP rs138428670
- ExAC rs138428670
- TOPMed rs138428670
- gnomAD rs138428670
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.10
- CADD 9.49
- PolyPhen-2 0.00
- SIFT 0.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available