G27R (p.Gly27Arg) variant of ITGB3 (Integrin beta-3)
G27R (p.Gly27Arg) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Glanzmann thrombasthenia 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- rs1037047731
- ClinGen CA291240434
- ClinVar RCV002281034
- ClinVar RCV005096021
- Conflicting interpretations
- Glanzmann thrombasthenia 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- MetaLR 0.06
- MetaSVM -1.02
- CADD 35.00
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Glanzmann thrombasthenia 2; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available