P9R (p.Pro9Arg) variant of ITGB3 (Integrin beta-3)
P9R (p.Pro9Arg) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
P9R (p.Pro9Arg) variant details
- p.Pro9Arg
- ExAC rs763800456
- TOPMed rs763800456
- gnomAD rs763800456
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- MetaLR 0.04
- MetaSVM -1.01
- CADD 5.55
- PolyPhen-2 0.01
- SIFT 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available