A10V (p.Ala10Val) variant of KDM6B (Lysine-specific demethylase 6B)
A10V (p.Ala10Val) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- ESP rs145441642
- TOPMed rs145441642
- gnomAD rs145441642
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.10
- MetaLR 0.07
- MetaSVM -0.94
- CADD 23.80
- PolyPhen-2 0.63
- SIFT 0.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available