P62A (p.Pro62Ala) variant of KDM6B (Lysine-specific demethylase 6B)
P62A (p.Pro62Ala) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P62A (p.Pro62Ala) variant details
- p.Pro62Ala
- rs144535196
- ClinGen CA8360099
- ClinVar RCV002840605
- ESP rs144535196
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.10
- CADD 17.20
- PolyPhen-2 0.26
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)