L20P (p.Leu20Pro) variant of ITGB3 (Integrin beta-3)
L20P (p.Leu20Pro) 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 0.42 / 1. The record also includes population frequency data and structural context.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- rs2149057083
- ClinGen CA400028389
- ClinVar RCV002254807
- ClinVar RCV005406416
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.23
- MetaLR 0.06
- MetaSVM -1.09
- CADD 29.50
- PolyPhen-2 0.64
- SIFT 0.01
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available