A42A (p.Ala42Ala) variant of AVPR2 (Vasopressin V2 receptor)
A42A (p.Ala42Ala) in AVPR2 (Vasopressin V2 receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A42A (p.Ala42Ala) variant details
- p.Ala42Ala
- rs2234695
- gnomAD X-153905632-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.296
- CADD 7.35
- Population evidence available
- Structural context available
- Literature evidence available