M1I (p.Met1Ile) variant of SH2D1A (SH2 domain-containing protein 1A)
M1I (p.Met1Ile) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs111033629
- ClinGen CA255604
- ClinVar RCV000011655
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- MetaLR 0.76
- MetaSVM 0.53
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.98
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are… (PMID 10934222)
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)