A13T (p.Ala13Thr) variant of KDM6A (Lysine-specific demethylase 6A)
A13T (p.Ala13Thr) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kabuki syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- gnomAD rs1321489657
- Uncertain significance
- Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 21.30
- PolyPhen-2 1.00
- SIFT 0.48
- ClinVar: Uncertain significance (Kabuki syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.7e-05)
- Structural context available