L20R (p.Leu20Arg) variant of ITGB3 (Integrin beta-3)
L20R (p.Leu20Arg) in ITGB3 (Integrin beta-3) 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 0.29 / 1. The record also includes structural context.
L20R (p.Leu20Arg) variant details
- p.Leu20Arg
- rs2149057083
- ClinGen CA400028386
- ClinVar RCV002281033
- ClinVar RCV002511151
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- AlphaMissense 0.23
- MetaLR 0.06
- MetaSVM -1.09
- PolyPhen-2 0.64
- SIFT 0.01
- MutPred 0.91
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available