A17T (p.Ala17Thr) variant of KDM6A (Lysine-specific demethylase 6A)
A17T (p.Ala17Thr) 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 Inborn genetic diseases; Kabuki syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- rs1018780128
- ClinGen CA329555541
- ClinVar RCV001909661
- ClinVar RCV006362926
- Conflicting interpretations
- Inborn genetic diseases; Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 22.70
- PolyPhen-2 0.41
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Kabuki syndrome 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.4e-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)