F48F (p.Phe48Phe) variant of AVPR2 (Vasopressin V2 receptor)
F48F (p.Phe48Phe) in AVPR2 (Vasopressin V2 receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
F48F (p.Phe48Phe) variant details
- p.Phe48Phe
- gnomAD X-153905650-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.125
- CADD 6.25
- Population evidence available
- Structural context available
- Literature evidence available