L43L (p.Leu43Leu) variant of AVPR2 (Vasopressin V2 receptor)
L43L (p.Leu43Leu) in AVPR2 (Vasopressin V2 receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L43L (p.Leu43Leu) variant details
- p.Leu43Leu
- rs1557100451
- gnomAD X-153905635-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.208
- CADD 6.84
- Population evidence available
- Structural context available
- Literature evidence available