A40T (p.Ala40Thr) variant of KDM6B (Lysine-specific demethylase 6B)
A40T (p.Ala40Thr) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- rs866351379
- cosmic curated COSV10807
- TOPMed rs866351379
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.11
- MetaLR 0.03
- MetaSVM -1.04
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available