P33S (p.Pro33Ser) variant of KDM6B (Lysine-specific demethylase 6B)
P33S (p.Pro33Ser) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- ExAC rs779247041
- gnomAD rs779247041
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.08
- MetaLR 0.12
- MetaSVM -0.80
- CADD 23.30
- PolyPhen-2 0.97
- SIFT 0.46
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available