P32L (p.Pro32Leu) variant of KDM6B (Lysine-specific demethylase 6B)
P32L (p.Pro32Leu) 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; Neurodevelopmental disorder with coarse facies and mild distal ske. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- rs753819960
- ClinGen CA8360044
- cosmic curated COSV54687
- ClinVar RCV001754349
- Uncertain significance
- not provided; Neurodevelopmental disorder with coarse facies and mild distal ske
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.04
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Neurodevelopmental disorder with coarse facies and)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)