S57P (p.Ser57Pro) variant of SH2D1A (SH2 domain-containing protein 1A)
S57P (p.Ser57Pro) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in one XLP1 patient. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S57P (p.Ser57Pro) variant details
- p.Ser57Pro
- UniProt VAR 048016
- Uncertain significance
- in one XLP1 patient
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.71
- MetaLR 0.69
- MetaSVM 0.49
- CADD 23.70
- PolyPhen-2 0.61
- SIFT 0.20
- EBI: Variant of uncertain significance (in one XLP1 patient)
- UniProt: Uncertain significance (in one XLP1 patient)
- Population evidence available
- Structural context available
- Cited in: Fatal hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection in a patient with a novel… (PMID 14583885)