F48S (p.Phe48Ser) variant of AVPR2 (Vasopressin V2 receptor)
F48S (p.Phe48Ser) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
F48S (p.Phe48Ser) variant details
- p.Phe48Ser
- gnomAD X-153905649-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available