G50D (p.Gly50Asp) variant of KDM6A (Lysine-specific demethylase 6A)
G50D (p.Gly50Asp) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Kabuki syndrome 2; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G50D (p.Gly50Asp) variant details
- p.Gly50Asp
- rs923984398
- ClinGen CA329555544
- ClinVar RCV001800030
- ClinVar RCV002541333
- Conflicting interpretations
- not provided; Kabuki syndrome 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 22.50
- PolyPhen-2 0.68
- SIFT 0.45
- ClinVar: Conflicting classifications of pathogenicity (not provided; Kabuki syndrome 2; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.6e-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)