M80T (p.Met80Thr) variant of AQP7 (Aquaporin-7)
M80T (p.Met80Thr) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
M80T (p.Met80Thr) variant details
- p.Met80Thr
- ExAC rs767509430
- TOPMed rs767509430
- gnomAD rs767509430
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.70
- CADD 22.10
- PolyPhen-2 0.21
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available