Y50* (p.Tyr50Ter) variant of SH2D1A (SH2 domain-containing protein 1A)
Y50* (p.Tyr50Ter) in SH2D1A (SH2 domain-containing protein 1A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Y50* (p.Tyr50Ter) variant details
- p.Tyr50Ter
- rs1556620698
- ClinGen CA414123435
- ClinVar RCV000624095
- Ensembl rs1556620698
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 36.00
- SIFT 0.12
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)