V78I (p.Val78Ile) variant of AQP7 (Aquaporin-7)
V78I (p.Val78Ile) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
V78I (p.Val78Ile) variant details
- p.Val78Ile
- gnomAD rs1270218464
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.60
- CADD 22.70
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available