A13T (p.Ala13Thr) variant of KDM6B (Lysine-specific demethylase 6B)
A13T (p.Ala13Thr) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- 1000Genomes rs373339030
- ESP rs373339030
- ExAC rs373339030
- gnomAD rs373339030
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.04
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available