L133V (p.Leu133Val) variant of APOB (Apolipoprotein B-100)
L133V (p.Leu133Val) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L133V (p.Leu133Val) variant details
- p.Leu133Val
- gnomAD rs1354518734
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.05
- MetaLR 0.01
- MetaSVM -1.06
- CADD 14.90
- PolyPhen-2 0.04
- SIFT 0.30
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available