I51V (p.Ile51Val) variant of KDM6B (Lysine-specific demethylase 6B)
I51V (p.Ile51Val) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I51V (p.Ile51Val) variant details
- p.Ile51Val
- ExAC rs751998041
- gnomAD rs751998041
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.05
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available