R15Q (p.Arg15Gln) variant of KEAP1 (Q14145)
R15Q (p.Arg15Gln) 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 0.18 / 1. The record also includes population frequency data and structural context.
R15Q (p.Arg15Gln) variant details
- p.Arg15Gln
- rs144429440
- ClinGen CA9195714
- cosmic curated COSV50285
- ClinVar RCV004184245
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.05
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available