S77N (p.Ser77Asn) variant of ITGA2B (Integrin alpha-IIb)
S77N (p.Ser77Asn) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S77N (p.Ser77Asn) variant details
- p.Ser77Asn
- rs886053010
- ClinGen CA10639820
- ClinVar RCV000270766
- Ensembl rs886053010
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.15
- MetaLR 0.22
- MetaSVM -0.94
- CADD 3.85
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available