V14L (p.Val14Leu) variant of ANGPTL3 (Angiopoietin-related protein 3)
V14L (p.Val14Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V14L (p.Val14Leu) variant details
- p.Val14Leu
- rs776558413
- ClinGen CA886497
- ClinVar RCV004414988
- ExAC rs776558413
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.13
- CADD 22.70
- PolyPhen-2 0.63
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)