M80I (p.Met80Ile) variant of AQP7 (Aquaporin-7)
M80I (p.Met80Ile) in AQP7 (Aquaporin-7) is a missense change. 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.
M80I (p.Met80Ile) variant details
- p.Met80Ile
- ExAC rs761869327
- gnomAD rs761869327
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.31
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available