S78R (p.Ser78Arg) variant of APOA5 (Apolipoprotein A-V)
S78R (p.Ser78Arg) in APOA5 (Apolipoprotein A-V) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S78R (p.Ser78Arg) variant details
- p.Ser78Arg
- gnomAD 11-116790967-CCTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.494
- CADD 24.20
- Population evidence available
- Structural context available
- Literature evidence available