L214R (p.Leu214Arg) variant of ITGA2B (Integrin alpha-IIb)
L214R (p.Leu214Arg) 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.
L214R (p.Leu214Arg) variant details
- p.Leu214Arg
- rs137852911
- ClinGen CA399805518
- ClinVar RCV001580255
- TOPMed rs137852911
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.80
- MetaLR 0.65
- MetaSVM 0.35
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT1)
- UniProt: Pathogenic (in GT1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available