C31Y (p.Cys31Tyr) variant of KDM6B (Lysine-specific demethylase 6B)
C31Y (p.Cys31Tyr) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
C31Y (p.Cys31Tyr) variant details
- p.Cys31Tyr
- ExAC rs764238434
- TOPMed rs764238434
- gnomAD rs764238434
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.19
- MetaLR 0.08
- MetaSVM -0.98
- CADD 27.10
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available