C13Y (p.Cys13Tyr) variant of KEAP1 (Q14145)
C13Y (p.Cys13Tyr) in KEAP1 (Q14145) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
C13Y (p.Cys13Tyr) variant details
- p.Cys13Tyr
- cosmic curated COSV50261
- Ensembl rs2144631359
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.06
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available