P14T (p.Pro14Thr) variant of AVPR2 (Vasopressin V2 receptor)
P14T (p.Pro14Thr) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and published literature.
P14T (p.Pro14Thr) variant details
- p.Pro14Thr
- gnomAD X-153905546-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.073
- CADD 1.79
- PolyPhen-2 0.01
- SIFT 0.50
- Population evidence available
- Literature evidence available