S80I (p.Ser80Ile) variant of APOA5 (Apolipoprotein A-V)
S80I (p.Ser80Ile) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S80I (p.Ser80Ile) variant details
- p.Ser80Ile
- gnomAD 11-116790990-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.10
- CADD 6.18
- PolyPhen-2 0.15
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available