Y54* (p.Tyr54Ter) variant of SH2D1A (SH2 domain-containing protein 1A)
Y54* (p.Tyr54Ter) in SH2D1A (SH2 domain-containing protein 1A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in XLP1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Y54* (p.Tyr54Ter) variant details
- p.Tyr54Ter
- rs2522814914
- ClinVar RCV004560455
- Likely pathogenic
- in XLP1
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 35.00
- SIFT 0.03
- EBI: Likely pathogenic (in XLP1)
- UniProt: Likely pathogenic (in XLP1)
- Population evidence available
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)