I53V (p.Ile53Val) variant of AGTR1 (Type-1 angiotensin II receptor)
I53V (p.Ile53Val) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
I53V (p.Ile53Val) variant details
- p.Ile53Val
- gnomAD 3-148741192-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.19
- CADD 24.40
- PolyPhen-2 0.83
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available