C69S (p.Cys69Ser) variant of WAS (P42768)
C69S (p.Cys69Ser) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Thrombocytopenia 1; Wiskott-Aldrich syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
C69S (p.Cys69Ser) variant details
- p.Cys69Ser
- rs374283590
- ClinGen CA10403869
- ClinVar RCV001725810
- ClinVar RCV002073401
- Conflicting interpretations
- Inborn genetic diseases; Thrombocytopenia 1; Wiskott-Aldrich syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.49
- CADD 20.80
- PolyPhen-2 0.17
- SIFT 0.26
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Thrombocytopenia 1; Wiskott-Aldrich syn)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00036)
- 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)