M16V (p.Met16Val) variant of AQP7 (Aquaporin-7)
M16V (p.Met16Val) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
M16V (p.Met16Val) variant details
- p.Met16Val
- ExAC rs752676074
- gnomAD rs752676074
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.20
- CADD 8.18
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available