R6P (p.Arg6Pro) variant of ITGB3 (Integrin beta-3)
R6P (p.Arg6Pro) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- 1000Genomes rs762907751
- ExAC rs762907751
- TOPMed rs762907751
- gnomAD rs762907751
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- MetaLR 0.04
- MetaSVM -1.07
- CADD 9.42
- PolyPhen-2 0.04
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available