A3S (p.Ala3Ser) variant of SH2D1A (SH2 domain-containing protein 1A)
A3S (p.Ala3Ser) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; X-linked lymphoproliferative disease due to SH2D1A deficiency; Au. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- rs148554414
- ClinGen CA10509240
- cosmic curated COSV63579
- ClinVar RCV001520732
- Conflicting interpretations
- not specified; X-linked lymphoproliferative disease due to SH2D1A deficiency; Au
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.60
- MetaLR 0.69
- MetaSVM -0.04
- CADD 4.81
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Conflicting classifications of pathogenicity (not specified; X-linked lymphoproliferative disease due to SH2D1)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CHS population (allele frequency 0.013)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)