A11T (p.Ala11Thr) variant of KDM6A (Lysine-specific demethylase 6A)
A11T (p.Ala11Thr) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- NCI-TCGA TCGA novel
- Ensembl rs2146441171
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available