A14T (p.Ala14Thr) variant of KDM6A (Lysine-specific demethylase 6A)
A14T (p.Ala14Thr) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- Ensembl rs2146441483
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available