S34R (p.Ser34Arg) variant of SH2D1A (SH2 domain-containing protein 1A)
S34R (p.Ser34Arg) 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 provided; X-linked lymphoproliferative disease due to SH2D1A deficiency. The record also includes variant effect predictions and structural context.
S34R (p.Ser34Arg) variant details
- p.Ser34Arg
- Ensembl rs2059993746
- Conflicting interpretations
- not provided; X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- MetaLR 0.90
- MetaSVM 0.90
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; X-linked lymphoproliferative disease due to SH2D1A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available