V2I (p.Val2Ile) variant of AQP7 (Aquaporin-7)
V2I (p.Val2Ile) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V2I (p.Val2Ile) variant details
- p.Val2Ile
- TOPMed rs1458881244
- gnomAD rs1458881244
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.18
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available