S23I (p.Ser23Ile) variant of AVPR2 (Vasopressin V2 receptor)
S23I (p.Ser23Ile) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S23I (p.Ser23Ile) variant details
- p.Ser23Ile
- gnomAD X-153905574-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- CADD 19.60
- PolyPhen-2 0.05
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available