P35R (p.Pro35Arg) variant of KDM6B (Lysine-specific demethylase 6B)
P35R (p.Pro35Arg) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P35R (p.Pro35Arg) variant details
- p.Pro35Arg
- TOPMed rs1483985578
- gnomAD rs1483985578
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.20
- MetaLR 0.14
- MetaSVM -0.84
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available