L452R (p.Leu452Arg) variant of ITGA2B (Integrin alpha-IIb)
L452R (p.Leu452Arg) 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 0.78 / 1. The record also includes population frequency data and structural context.
L452R (p.Leu452Arg) variant details
- p.Leu452Arg
- ExAC rs775251867
- gnomAD rs775251867
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.85
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available