A20V (p.Ala20Val) variant of LPL (Lipoprotein lipase)
A20V (p.Ala20Val) in LPL (Lipoprotein lipase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs572477224
- ClinGen CA4655274
- ClinVar RCV000930734
- ClinVar RCV001272625
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- MetaLR 0.58
- MetaSVM -0.58
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available
- Cited in: Lipoprotein Lipase Deficiency. (PMID 20301485)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)