P38S (p.Pro38Ser) variant of SH2D1A (SH2 domain-containing protein 1A)
P38S (p.Pro38Ser) 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 0.57 / 1. The record also includes population frequency data and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- gnomAD rs1219670952
- Uncertain significance
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.48
- MetaLR 0.65
- MetaSVM 0.39
- CADD 22.90
- PolyPhen-2 0.28
- SIFT 0.06
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to SH2D1A deficiency)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00015)
- Structural context available