R72C (p.Arg72Cys) variant of APOC2 (Apolipoprotein C-II)
R72C (p.Arg72Cys) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R72C (p.Arg72Cys) variant details
- p.Arg72Cys
- rs145771233
- gnomAD 19-44948840-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.50
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available