R358C (p.Arg358Cys) variant of ITGA2B (Integrin alpha-IIb)
R358C (p.Arg358Cys) 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 0.69 / 1. The record also includes population frequency data and structural context.
R358C (p.Arg358Cys) variant details
- p.Arg358Cys
- rs1026539797
- ClinGen CA290954009
- NCI-TCGA Cosmic COSV5223
- ClinVar RCV000489864
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.66
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance (in GT1)
- UniProt: Uncertain significance (in GT1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available