D2G (p.Asp2Gly) variant of SH2D1A (SH2 domain-containing protein 1A)
D2G (p.Asp2Gly) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; X-linked lymphoproliferative disease due to SH2D1A deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
D2G (p.Asp2Gly) variant details
- p.Asp2Gly
- rs1556619319
- ClinGen CA414122169
- ClinVar RCV000660264
- ClinVar RCV000788711
- Likely pathogenic
- not provided; X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- AlphaMissense 0.30
- MetaLR 0.51
- MetaSVM -0.03
- PolyPhen-2 0.68
- SIFT 0.01
- MutPred 0.32
- ClinVar: Likely pathogenic (not provided; X-linked lymphoproliferative disease due to SH2D1A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)