V52A (p.Val52Ala) variant of AGTR1 (Type-1 angiotensin II receptor)
V52A (p.Val52Ala) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
V52A (p.Val52Ala) variant details
- p.Val52Ala
- cosmic curated COSV10083
- ESP rs150629733
- ExAC rs150629733
- TOPMed rs150629733
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.57
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available