S7W (p.Ser7Trp) variant of KDM6A (Lysine-specific demethylase 6A)
S7W (p.Ser7Trp) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Kabuki syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S7W (p.Ser7Trp) variant details
- p.Ser7Trp
- rs770931883
- ClinGen CA10392090
- cosmic curated COSV10093
- ClinVar RCV001581921
- Uncertain significance
- not provided; Inborn genetic diseases; Kabuki syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Kabuki syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- 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)