L53L (p.Leu53Leu) variant of AVPR2 (Vasopressin V2 receptor)
L53L (p.Leu53Leu) in AVPR2 (Vasopressin V2 receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L53L (p.Leu53Leu) variant details
- p.Leu53Leu
- gnomAD X-153905665-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 7.98
- Population evidence available
- Structural context available
- Literature evidence available