L14P (p.Leu14Pro) variant of APOB (Apolipoprotein B-100)
L14P (p.Leu14Pro) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- TOPMed rs922885039
- gnomAD rs922885039
- Benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.19
- MetaLR 0.03
- MetaSVM -1.06
- CADD 22.30
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Benign (Cardiovascular phenotype)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available