T6I (p.Thr6Ile) variant of AQP4 (Aquaporin-4)
T6I (p.Thr6Ile) in AQP4 (Aquaporin-4) 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.
T6I (p.Thr6Ile) variant details
- p.Thr6Ile
- gnomAD rs2055048243
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.18
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available