V47M (p.Val47Met) variant of AQP3 (Aquaporin-3)
V47M (p.Val47Met) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
V47M (p.Val47Met) variant details
- p.Val47Met
- cosmic curated COSV53048
- ExAC rs778828841
- gnomAD rs778828841
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.68
- CADD 23.10
- PolyPhen-2 0.68
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available