V130L (p.Val130Leu) variant of AGT (Angiotensinogen)
V130L (p.Val130Leu) in AGT (Angiotensinogen) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V130L (p.Val130Leu) variant details
- p.Val130Leu
- rs144347709
- ClinGen CA1448305
- ClinVar RCV002194678
- 1000Genomes rs144347709
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.23
- CADD 4.43
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.012)
- Structural context available