G39V (p.Gly39Val) variant of SH2D1A (SH2 domain-containing protein 1A)
G39V (p.Gly39Val) 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 X-linked lymphoproliferative disease due to SH2D1A deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G39V (p.Gly39Val) variant details
- p.Gly39Val
- rs1556619338
- ClinGen CA414122418
- ClinVar RCV000644910
- Ensembl rs1556619338
- Uncertain significance
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 23.10
- SIFT 0.00
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to SH2D1A deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)