W64* (p.Trp64Ter) variant of SH2D1A (SH2 domain-containing protein 1A)
W64* (p.Trp64Ter) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
W64* (p.Trp64Ter) variant details
- p.Trp64Ter
- rs746035909
- ClinGen CA10509271
- ClinVar RCV001949632
- ExAC rs746035909
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.819
- CADD 43.00
- SIFT 0.11
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)