S25P (p.Ser25Pro) variant of ANGPTL3 (Angiopoietin-related protein 3)
S25P (p.Ser25Pro) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
S25P (p.Ser25Pro) variant details
- p.Ser25Pro
- rs746135169
- ClinGen CA23748231
- ClinVar RCV002653399
- TOPMed rs746135169
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0593
- REVEL 0.03
- CADD 5.75
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available