E40E (p.Glu40Glu) variant of AVPR2 (Vasopressin V2 receptor)
E40E (p.Glu40Glu) 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.
E40E (p.Glu40Glu) variant details
- p.Glu40Glu
- rs12842582
- gnomAD X-153905626-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 5.26
- Population evidence available
- Structural context available
- Literature evidence available