G49S (p.Gly49Ser) variant of SH2D1A (SH2 domain-containing protein 1A)
G49S (p.Gly49Ser) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G49S (p.Gly49Ser) variant details
- p.Gly49Ser
- cosmic curated COSV10075
- ESP rs139045675
- ExAC rs139045675
- TOPMed rs139045675
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.65
- MetaLR 0.94
- MetaSVM 1.03
- CADD 26.30
- PolyPhen-2 0.77
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance (in XLP1)
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available