V46I (p.Val46Ile) variant of AQP7 (Aquaporin-7)
V46I (p.Val46Ile) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V46I (p.Val46Ile) variant details
- p.Val46Ile
- gnomAD rs1333082206
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.11
- CADD 13.00
- PolyPhen-2 0.17
- SIFT 0.56
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available