R23K (p.Arg23Lys) variant of AGTR1 (Type-1 angiotensin II receptor)
R23K (p.Arg23Lys) 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 0.36 / 1. The record also includes population frequency data and structural context.
R23K (p.Arg23Lys) variant details
- p.Arg23Lys
- rs1047885033
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10083
- TOPMed rs1047885033
- Uncertain significance
- Renal tubular dysgenesis of genetic origin; Essential hypertension, genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.10
- CADD 20.20
- PolyPhen-2 0.30
- SIFT 0.64
- ClinVar: Uncertain significance (Renal tubular dysgenesis of genetic origin; Essential hypertensi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available