V50M (p.Val50Met) variant of AGTR1 (Type-1 angiotensin II receptor)
V50M (p.Val50Met) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal tubular dysgenesis of genetic origin; Essential hypertension, genetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
V50M (p.Val50Met) variant details
- p.Val50Met
- TOPMed rs1450888240
- gnomAD rs1450888240
- Uncertain significance
- Renal tubular dysgenesis of genetic origin; Essential hypertension, genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.59
- CADD 26.40
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (Renal tubular dysgenesis of genetic origin; Essential hypertensi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available