Q2R (p.Gln2Arg) variant of KEAP1 (Q14145)
Q2R (p.Gln2Arg) in KEAP1 (Q14145) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q2R (p.Gln2Arg) variant details
- p.Gln2Arg
- Ensembl rs2144631773
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.22
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Middle Eastern population (allele frequency 0.00019)
- Structural context available