V54M (p.Val54Met) variant of APOA1 (Apolipoprotein A-I)
V54M (p.Val54Met) in APOA1 (Apolipoprotein A-I) 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.
V54M (p.Val54Met) variant details
- p.Val54Met
- gnomAD 11-116837041-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.20
- CADD 14.50
- PolyPhen-2 0.20
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available