A13V (p.Ala13Val) variant of KDM6B (Lysine-specific demethylase 6B)
A13V (p.Ala13Val) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- ExAC rs746560165
- gnomAD rs746560165
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -0.98
- CADD 25.20
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available