P76L (p.Pro76Leu) variant of APOA5 (Apolipoprotein A-V)
P76L (p.Pro76Leu) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P76L (p.Pro76Leu) variant details
- p.Pro76Leu
- gnomAD 11-116791002-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.40
- CADD 22.40
- PolyPhen-2 0.23
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available