S49I (p.Ser49Ile) variant of APOA1 (Apolipoprotein A-I)
S49I (p.Ser49Ile) in APOA1 (Apolipoprotein A-I) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S49I (p.Ser49Ile) variant details
- p.Ser49Ile
- ExAC rs755026583
- TOPMed rs755026583
- gnomAD rs755026583
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.27
- CADD 22.60
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available