R72S (p.Arg72Ser) variant of APOC2 (Apolipoprotein C-II)
R72S (p.Arg72Ser) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R72S (p.Arg72Ser) variant details
- p.Arg72Ser
- rs145771233
- gnomAD 19-44948840-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.82
- Most common in the Non-Finnish European population (allele frequency 0.00028)
- Structural context available
- Literature evidence available