S78N (p.Ser78Asn) variant of APOA5 (Apolipoprotein A-V)
S78N (p.Ser78Asn) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S78N (p.Ser78Asn) variant details
- p.Ser78Asn
- gnomAD 11-116791101-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- CADD 6.94
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available