P54S (p.Pro54Ser) variant of KDM6B (Lysine-specific demethylase 6B)
P54S (p.Pro54Ser) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- rs202081763
- ClinGen CA8360090
- ClinVar RCV002682369
- 1000Genomes rs202081763
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.06
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- 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)