S63C (p.Ser63Cys) variant of SH2D1A (SH2 domain-containing protein 1A)
S63C (p.Ser63Cys) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes published literature and structural context.
S63C (p.Ser63Cys) variant details
- p.Ser63Cys
- rs1290371898
- ClinGen CA414123658
- ClinVar RCV004513497
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- AlphaMissense 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)