V52I (p.Val52Ile) variant of AGTR1 (Type-1 angiotensin II receptor)
V52I (p.Val52Ile) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V52I (p.Val52Ile) variant details
- p.Val52Ile
- gnomAD 3-148741189-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.12
- CADD 23.60
- PolyPhen-2 0.90
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available