V49I (p.Val49Ile) variant of AQP7 (Aquaporin-7)
V49I (p.Val49Ile) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V49I (p.Val49Ile) variant details
- p.Val49Ile
- ExAC rs768771734
- gnomAD rs768771734
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.12
- CADD 20.60
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available