A42V (p.Ala42Val) variant of LPL (Lipoprotein lipase)
A42V (p.Ala42Val) in LPL (Lipoprotein lipase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- NCI-TCGA Cosmic COSV6092
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 24.30
- PolyPhen-2 0.68
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available