S30R (p.Ser30Arg) variant of APOC3 (Apolipoprotein C-III)
S30R (p.Ser30Arg) in APOC3 (Apolipoprotein C-III) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S30R (p.Ser30Arg) variant details
- p.Ser30Arg
- gnomAD 11-116830803-TCAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 24.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available