I7T (p.Ile7Thr) variant of AQP2 (Aquaporin-2)
I7T (p.Ile7Thr) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I7T (p.Ile7Thr) variant details
- p.Ile7Thr
- rs1592814511
- ClinGen CA384771415
- ClinVar RCV003121408
- Ensembl rs1592814511
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.30
- CADD 20.50
- PolyPhen-2 0.10
- SIFT 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available