A16V (p.Ala16Val) variant of KDM6A (Lysine-specific demethylase 6A)
A16V (p.Ala16Val) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- TOPMed rs1007509134
- gnomAD rs1007509134
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available