I37V (p.Ile37Val) variant of AGTR1 (Type-1 angiotensin II receptor)
I37V (p.Ile37Val) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I37V (p.Ile37Val) variant details
- p.Ile37Val
- cosmic curated COSV62558
- Ensembl rs1559933743
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.10
- CADD 17.00
- PolyPhen-2 0.03
- SIFT 0.84
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available