D59G (p.Asp59Gly) variant of ITGA2B (Integrin alpha-IIb)
D59G (p.Asp59Gly) 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 Platelet-type bleeding disorder 16; Glanzmann thrombasthenia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D59G (p.Asp59Gly) variant details
- p.Asp59Gly
- rs2143506303
- ClinGen CA399806780
- ClinVar RCV002267592
- ClinVar RCV003333803
- Uncertain significance
- Platelet-type bleeding disorder 16; Glanzmann thrombasthenia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.33
- MetaLR 0.35
- MetaSVM -0.52
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.14
- ClinVar: Uncertain significance (Platelet-type bleeding disorder 16; Glanzmann thrombasthenia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available