M49I (p.Met49Ile) variant of APOA5 (Apolipoprotein A-V)
M49I (p.Met49Ile) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
M49I (p.Met49Ile) variant details
- p.Met49Ile
- TOPMed rs1240086727
- gnomAD rs1240086727
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.18
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available