M70I (p.Met70Ile) variant of AQP4 (Aquaporin-4)
M70I (p.Met70Ile) in AQP4 (Aquaporin-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
M70I (p.Met70Ile) variant details
- p.Met70Ile
- rs771316211
- ClinGen CA402099633
- ClinVar RCV004152761
- ExAC rs771316211
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.32
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available