F320S (p.Phe320Ser) variant of ITGA2B (Integrin alpha-IIb)
F320S (p.Phe320Ser) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
F320S (p.Phe320Ser) variant details
- p.Phe320Ser
- rs2510082644
- ClinGen CA399804774
- ClinVar RCV003330341
- UniProt VAR 009887
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.89
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT1)
- UniProt: Pathogenic (in GT1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic… (PMID 9722314)
- Cited in: A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to… (PMID 10607701)