R6L (p.Arg6Leu) variant of ITGB3 (Integrin beta-3)
R6L (p.Arg6Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- rs762907751
- ClinGen CA8622828
- ClinVar RCV003739768
- 1000Genomes rs762907751
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- MetaLR 0.04
- MetaSVM -1.05
- CADD 8.38
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available