I518N (p.Ile518Asn) variant of ITGA2B (Integrin alpha-IIb)
I518N (p.Ile518Asn) 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 0.73 / 1. The record also includes population frequency data and structural context.
I518N (p.Ile518Asn) variant details
- p.Ile518Asn
- rs767588159
- ClinGen CA8603038
- ClinVar RCV003222567
- ExAC rs767588159
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.81
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available