R55Q (p.Arg55Gln) variant of SH2D1A (SH2 domain-containing protein 1A)
R55Q (p.Arg55Gln) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Lymphoproliferative disorder; X-linked lymphoproliferative disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R55Q (p.Arg55Gln) variant details
- p.Arg55Gln
- rs111033630
- ClinGen CA414123516
- NCI-TCGA Cosmic COSV6357
- cosmic curated COSV63578
- Conflicting interpretations
- not provided; Lymphoproliferative disorder; X-linked lymphoproliferative disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.87
- AlphaMissense 0.15
- MetaLR 0.79
- MetaSVM 0.75
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Lymphoproliferative disorder; X-linked lymphoproli)
- EBI: Pathogenic (in XLP1)
- UniProt: Pathogenic (in XLP1)
- Population evidence available
- Structural context available
- Cited in: Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP… (PMID 21119115)
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)