G49V (p.Gly49Val) variant of SH2D1A (SH2 domain-containing protein 1A)
G49V (p.Gly49Val) 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 X-linked lymphoproliferative disease due to SH2D1A deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
G49V (p.Gly49Val) variant details
- p.Gly49Val
- rs2147531318
- ClinGen CA414123412
- ClinVar RCV001920267
- Ensembl rs2147531318
- Uncertain significance
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.47
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to SH2D1A deficiency)
- EBI: Pathogenic (in XLP1)
- UniProt: Pathogenic (in XLP1)
- Structural context available
- Cited in: SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses. (PMID 11493483)
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)