G50S (p.Gly50Ser) variant of KDM6A (Lysine-specific demethylase 6A)
G50S (p.Gly50Ser) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; Kabuki syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G50S (p.Gly50Ser) variant details
- p.Gly50Ser
- rs1190008554
- ClinGen CA413020387
- ClinVar RCV002778646
- ClinVar RCV006612735
- Likely benign
- Inborn genetic diseases; Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 21.00
- PolyPhen-2 0.05
- SIFT 0.80
- ClinVar: Likely benign (Inborn genetic diseases; Kabuki syndrome 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00012)
- 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)