P37L (p.Pro37Leu) variant of KDM6B (Lysine-specific demethylase 6B)
P37L (p.Pro37Leu) 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 KDM6B-related disorder; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- rs747558929
- ClinGen CA8360050
- ClinVar RCV003399702
- ClinVar RCV004634251
- Uncertain significance
- KDM6B-related disorder; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.02
- CADD 23.60
- PolyPhen-2 0.20
- SIFT 0.00
- ClinVar: Uncertain significance (KDM6B-related disorder; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)