V52D (p.Val52Asp) variant of AGTR1 (Type-1 angiotensin II receptor)
V52D (p.Val52Asp) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V52D (p.Val52Asp) variant details
- p.Val52Asp
- gnomAD 3-148741190-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.75
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available