M1T (p.Met1Thr) variant of SH2D1A (SH2 domain-containing protein 1A)
M1T (p.Met1Thr) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of X-linked lymphoproliferative disease due to SH2D1A deficiency; Autoinflammatory. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2147519353
- ClinGen CA414122161
- ClinVar RCV001946671
- ClinVar RCV002264437
- Pathogenic/Likely pathogenic
- X-linked lymphoproliferative disease due to SH2D1A deficiency; Autoinflammatory
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- MetaLR 0.81
- MetaSVM 0.77
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic/Likely pathogenic (X-linked lymphoproliferative disease due to SH2D1A deficiency; A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)