A43V (p.Ala43Val) variant of KDM6A (Lysine-specific demethylase 6A)
A43V (p.Ala43Val) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- Ensembl rs2146444005
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available