R60R (p.Arg60Arg) variant of APOC3 (Apolipoprotein C-III)
R60R (p.Arg60Arg) in APOC3 (Apolipoprotein C-III) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R60R (p.Arg60Arg) variant details
- p.Arg60Arg
- rs760769978
- gnomAD 11-116832764-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 13.60
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available