C38Y (p.Cys38Tyr) variant of KEAP1 (Q14145)
C38Y (p.Cys38Tyr) 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.
C38Y (p.Cys38Tyr) variant details
- p.Cys38Tyr
- ExAC rs778091974
- gnomAD rs778091974
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.12
- CADD 19.50
- PolyPhen-2 0.02
- SIFT 0.75
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available