R72K (p.Arg72Lys) variant of APOC2 (Apolipoprotein C-II)
R72K (p.Arg72Lys) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R72K (p.Arg72Lys) variant details
- p.Arg72Lys
- gnomAD rs1475941193
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.51
- AlphaMissense 0.32
- MetaLR 0.58
- MetaSVM -0.35
- CADD 34.00
- PolyPhen-2 0.93
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available