R121C (p.Arg121Cys) variant of ITGA2B (Integrin alpha-IIb)
R121C (p.Arg121Cys) 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 0.32 / 1. The record also includes population frequency data and structural context.
R121C (p.Arg121Cys) variant details
- p.Arg121Cys
- rs2510085210
- ClinGen CA399806167
- ClinVar RCV003606595
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.40
- MetaLR 0.39
- MetaSVM -0.34
- CADD 15.50
- PolyPhen-2 0.38
- SIFT 0.03
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available