V37M (p.Val37Met) variant of SH2D1A (SH2 domain-containing protein 1A)
V37M (p.Val37Met) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from ClinVar 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 0.29 / 1. The record also includes population frequency data and structural context.
V37M (p.Val37Met) variant details
- p.Val37Met
- cosmic curated COSV63578
- TOPMed rs1484550706
- gnomAD rs1484550706
- Uncertain significance
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.27
- MetaLR 0.42
- MetaSVM -0.39
- CADD 16.00
- PolyPhen-2 0.09
- SIFT 0.18
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to SH2D1A deficiency)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00066)
- Structural context available