A52A (p.Ala52Ala) variant of AVPR2 (Vasopressin V2 receptor)
A52A (p.Ala52Ala) in AVPR2 (Vasopressin V2 receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A52A (p.Ala52Ala) variant details
- p.Ala52Ala
- rs781791407
- gnomAD X-153905662-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.87
- Population evidence available
- Structural context available
- Literature evidence available