L20R (p.Leu20Arg) variant of ITGA2B (Integrin alpha-IIb)
L20R (p.Leu20Arg) 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 0.62 / 1. The record also includes structural context.
L20R (p.Leu20Arg) variant details
- p.Leu20Arg
- rs2048679372
- ClinGen CA399807023
- ClinVar RCV002281028
- ClinVar RCV002511150
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- AlphaMissense 0.08
- MetaLR 0.85
- MetaSVM 0.78
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.30
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available