Q49L (p.Gln49Leu) variant of ITGA2B (Integrin alpha-IIb)
Q49L (p.Gln49Leu) in ITGA2B (Integrin alpha-IIb) 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.
Q49L (p.Gln49Leu) variant details
- p.Gln49Leu
- rs1598385177
- ClinGen CA399806849
- ClinVar RCV003606730
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.34
- MetaLR 0.27
- MetaSVM -0.62
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available