R87C (p.Arg87Cys) variant of AQP7 (Aquaporin-7)
R87C (p.Arg87Cys) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R87C (p.Arg87Cys) variant details
- p.Arg87Cys
- cosmic curated COSV99952
- 1000Genomes rs143391243
- ESP rs143391243
- ExAC rs143391243
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.24
- CADD 8.77
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the 1KG:GWD population (allele frequency 0.043)
- Structural context available