S72R (p.Ser72Arg) variant of APOB (Apolipoprotein B-100)
S72R (p.Ser72Arg) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S72R (p.Ser72Arg) variant details
- p.Ser72Arg
- NCI-TCGA Cosmic COSV5195
- cosmic curated COSV51957
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.41
- MetaLR 0.25
- MetaSVM -0.27
- CADD 18.50
- PolyPhen-2 0.85
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available