P20T (p.Pro20Thr) variant of AVPR2 (Vasopressin V2 receptor)
P20T (p.Pro20Thr) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P20T (p.Pro20Thr) variant details
- p.Pro20Thr
- gnomAD X-153905564-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.091
- CADD 5.17
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available