S24L (p.Ser24Leu) variant of ANGPTL3 (Angiopoietin-related protein 3)
S24L (p.Ser24Leu) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S24L (p.Ser24Leu) variant details
- p.Ser24Leu
- rs1364780951
- ClinGen CA340599806
- ClinVar RCV001979305
- ClinVar RCV004044543
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.05
- CADD 7.56
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)