I146T (p.Ile146Thr) variant of AQP3 (Aquaporin-3)
I146T (p.Ile146Thr) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
I146T (p.Ile146Thr) variant details
- p.Ile146Thr
- ExAC rs758126339
- gnomAD rs758126339
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.62
- CADD 27.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available