A37V (p.Ala37Val) variant of KDM6A (Lysine-specific demethylase 6A)
A37V (p.Ala37Val) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Kabuki syndrome 2; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A37V (p.Ala37Val) variant details
- p.Ala37Val
- NCI-TCGA TCGA novel
- TOPMed rs1601994984
- Uncertain significance
- Kabuki syndrome 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- CADD 23.20
- PolyPhen-2 0.32
- SIFT 0.03
- ClinVar: Uncertain significance (Kabuki syndrome 2; Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available