A25V (p.Ala25Val) variant of KDM6B (Lysine-specific demethylase 6B)
A25V (p.Ala25Val) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- rs766290398
- NCI-TCGA Cosmic COSV5467
- cosmic curated COSV54677
- ExAC rs766290398
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -0.97
- CADD 23.80
- PolyPhen-2 0.19
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available