A16V (p.Ala16Val) variant of KDM6B (Lysine-specific demethylase 6B)
A16V (p.Ala16Val) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- cosmic curated COSV10807
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.05
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available