T11I (p.Thr11Ile) variant of AQP7 (Aquaporin-7)
T11I (p.Thr11Ile) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T11I (p.Thr11Ile) variant details
- p.Thr11Ile
- cosmic curated COSV53034
- TOPMed rs1308054467
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.27
- CADD 7.48
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available