V84M (p.Val84Met) variant of AQP7 (Aquaporin-7)
V84M (p.Val84Met) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V84M (p.Val84Met) variant details
- p.Val84Met
- cosmic curated COSV53032
- 1000Genomes rs567492290
- ExAC rs567492290
- TOPMed rs567492290
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.20
- CADD 0.00
- PolyPhen-2 0.03
- SIFT 0.21
- Most common in the HGDP:YI population (allele frequency 0.05)
- Structural context available