A60V (p.Ala60Val) variant of AVPR2 (Vasopressin V2 receptor)
A60V (p.Ala60Val) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- cosmic curated COSV61687
- ExAC rs782598402
- TOPMed rs782598402
- gnomAD rs782598402
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.53
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available