S160R (p.Ser160Arg) variant of ITGA2B (Integrin alpha-IIb)
S160R (p.Ser160Arg) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S160R (p.Ser160Arg) variant details
- p.Ser160Arg
- rs1279297832
- ClinGen CA399805892
- ClinVar RCV001225258
- ClinVar RCV002280900
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.61
- MetaLR 0.47
- MetaSVM -0.28
- CADD 23.50
- PolyPhen-2 0.40
- SIFT 0.02
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available