p.Leu19 Ser21del variant of AVPR2 (Vasopressin V2 receptor)
p.Leu19 Ser21del in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and published literature.
p.Leu19 Ser21del variant details
- rs782021693
- gnomAD X-153905551-TCTGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 11.80
- Population evidence available
- Literature evidence available