R8P (p.Arg8Pro) variant of ITGB3 (Integrin beta-3)
R8P (p.Arg8Pro) 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 Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R8P (p.Arg8Pro) variant details
- p.Arg8Pro
- rs910005054
- ClinGen CA400028271
- ClinVar RCV003562898
- TOPMed rs910005054
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- MetaLR 0.05
- MetaSVM -1.04
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available