A15V (p.Ala15Val) variant of KDM6A (Lysine-specific demethylase 6A)
A15V (p.Ala15Val) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- gnomAD X-44873595-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 23.80
- PolyPhen-2 0.20
- SIFT 0.02
- Most common in the HGDP:HAN population (allele frequency 0.02)
- Structural context available
- Literature evidence available