A13S (p.Ala13Ser) variant of KDM6B (Lysine-specific demethylase 6B)
A13S (p.Ala13Ser) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- rs373339030
- ClinGen CA8360031
- ClinVar RCV003044890
- 1000Genomes rs373339030
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.08
- CADD 22.60
- PolyPhen-2 0.17
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available