A27V (p.Ala27Val) variant of KDM6B (Lysine-specific demethylase 6B)
A27V (p.Ala27Val) 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 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormal. 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.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- ExAC rs751498485
- TOPMed rs751498485
- gnomAD rs751498485
- Uncertain significance
- Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormal
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -0.97
- CADD 23.80
- PolyPhen-2 0.08
- SIFT 0.02
- ClinVar: Uncertain significance (Neurodevelopmental disorder with coarse facies and mild distal s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available