I51T (p.Ile51Thr) variant of KDM6B (Lysine-specific demethylase 6B)
I51T (p.Ile51Thr) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
I51T (p.Ile51Thr) variant details
- p.Ile51Thr
- ExAC rs755289949
- gnomAD rs755289949
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.00
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available