I88T (p.Ile88Thr) variant of AQP7 (Aquaporin-7)
I88T (p.Ile88Thr) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
I88T (p.Ile88Thr) variant details
- p.Ile88Thr
- cosmic curated COSV53032
- 1000Genomes rs569224546
- ExAC rs569224546
- gnomAD rs569224546
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.71
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the HGDP:KALASH population (allele frequency 0.14)
- Structural context available