V40M (p.Val40Met) variant of SH2D1A (SH2 domain-containing protein 1A)
V40M (p.Val40Met) 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 Inborn genetic diseases; X-linked lymphoproliferative disease due to SH2D1A defi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V40M (p.Val40Met) variant details
- p.Val40Met
- rs199639961
- ClinGen CA10509247
- ClinVar RCV001224587
- ClinVar RCV002339601
- Uncertain significance
- Inborn genetic diseases; X-linked lymphoproliferative disease due to SH2D1A defi
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.37
- MetaLR 0.47
- MetaSVM 0.11
- CADD 25.70
- PolyPhen-2 0.51
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; X-linked lymphoproliferative disease du)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)