P62T (p.Pro62Thr) variant of KDM6B (Lysine-specific demethylase 6B)
P62T (p.Pro62Thr) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P62T (p.Pro62Thr) variant details
- p.Pro62Thr
- rs144535196
- ClinGen CA397910590
- ClinVar RCV003227258
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.17
- MetaLR 0.06
- MetaSVM -1.07
- CADD 22.00
- PolyPhen-2 0.51
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available