A66C (p.Ala66Cys) variant of APOC2 (Apolipoprotein C-II)
A66C (p.Ala66Cys) in APOC2 (Apolipoprotein C-II) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A66C (p.Ala66Cys) variant details
- p.Ala66Cys
- rs751214954
- gnomAD 19-44948839-CCG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 22.50
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available
- Literature evidence available