R6G (p.Arg6Gly) variant of ITGB3 (Integrin beta-3)
R6G (p.Arg6Gly) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- ExAC rs752525603
- TOPMed rs752525603
- gnomAD rs752525603
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- MetaLR 0.04
- MetaSVM -1.09
- CADD 10.40
- PolyPhen-2 0.01
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00013)
- Structural context available