A48V (p.Ala48Val) variant of KDM6A (Lysine-specific demethylase 6A)
A48V (p.Ala48Val) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- TOPMed rs1392945538
- gnomAD rs1392945538
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available