P43S (p.Pro43Ser) variant of KDM6B (Lysine-specific demethylase 6B)
P43S (p.Pro43Ser) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P43S (p.Pro43Ser) variant details
- p.Pro43Ser
- TOPMed rs2078517721
- gnomAD rs2078517721
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.09
- MetaLR 0.12
- MetaSVM -0.89
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available