A10T (p.Ala10Thr) variant of KDM6B (Lysine-specific demethylase 6B)
A10T (p.Ala10Thr) in KDM6B (Lysine-specific demethylase 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- TOPMed rs1338580025
- gnomAD rs1338580025
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.12
- MetaLR 0.07
- MetaSVM -1.02
- CADD 26.50
- PolyPhen-2 0.63
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available