I38H (p.Ile38His) variant of AGTR1 (Type-1 angiotensin II receptor)
I38H (p.Ile38His) in AGTR1 (Type-1 angiotensin II receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
I38H (p.Ile38His) variant details
- p.Ile38His
- rs387906577
- gnomAD 3-148741144-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 25.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. (PMID 16116425)