S39T (p.Ser39Thr) variant of KDM6B (Lysine-specific demethylase 6B)
S39T (p.Ser39Thr) in KDM6B (Lysine-specific demethylase 6B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S39T (p.Ser39Thr) variant details
- p.Ser39Thr
- rs544737445
- ClinGen CA8360053
- ClinVar RCV003240688
- 1000Genomes rs544737445
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.03
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- 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)