S130N (p.Ser130Asn) variant of ITGA2B (Integrin alpha-IIb)
S130N (p.Ser130Asn) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and structural context.
S130N (p.Ser130Asn) variant details
- p.Ser130Asn
- TOPMed rs1456578086
- Uncertain significance
- Inborn genetic diseases
- Missense
- MetaLR 0.31
- MetaSVM -0.28
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available