A27V (p.Ala27Val) variant of KDM6A (Lysine-specific demethylase 6A)
A27V (p.Ala27Val) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- Ensembl rs201220623
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available