P36S (p.Pro36Ser) variant of KDM6B (Lysine-specific demethylase 6B)
P36S (p.Pro36Ser) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- gnomAD rs1258751281
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.13
- MetaLR 0.09
- MetaSVM -0.91
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available