A43T (p.Ala43Thr) variant of KDM6A (Lysine-specific demethylase 6A)
A43T (p.Ala43Thr) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- cosmic curated COSV10531
- Ensembl rs1449970088
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 22.80
- PolyPhen-2 0.24
- SIFT 0.11
- Population evidence available
- Structural context available