P17T (p.Pro17Thr) variant of AVPR2 (Vasopressin V2 receptor)
P17T (p.Pro17Thr) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and published literature.
P17T (p.Pro17Thr) variant details
- p.Pro17Thr
- gnomAD X-153905555-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 5.30
- PolyPhen-2 0.00
- SIFT 0.81
- Population evidence available
- Literature evidence available