P57L (p.Pro57Leu) variant of KDM6B (Lysine-specific demethylase 6B)
P57L (p.Pro57Leu) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P57L (p.Pro57Leu) variant details
- p.Pro57Leu
- ESP rs373734474
- ExAC rs373734474
- TOPMed rs373734474
- gnomAD rs373734474
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.06
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available