S19L (p.Ser19Leu) variant of APOA5 (Apolipoprotein A-V)
S19L (p.Ser19Leu) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S19L (p.Ser19Leu) variant details
- p.Ser19Leu
- rs3135506
- ClinGen CA6289167
- cosmic curated COSV57062
- ClinVar RCV002347556
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.21
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Benign (in allele APOA5*3)
- UniProt: Benign (in allele APOA5*3)
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available