A50V (p.Ala50Val) variant of LPL (Lipoprotein lipase)
A50V (p.Ala50Val) in LPL (Lipoprotein lipase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- 1000Genomes rs148201569
- ESP rs148201569
- ExAC rs148201569
- TOPMed rs148201569
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available