V5L (p.Val5Leu) variant of KDM6B (Lysine-specific demethylase 6B)
V5L (p.Val5Leu) 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.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- ESP rs149672098
- ExAC rs149672098
- TOPMed rs149672098
- gnomAD rs149672098
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.08
- MetaLR 0.09
- MetaSVM -0.98
- CADD 24.20
- PolyPhen-2 0.48
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 8.5e-05)
- Structural context available