M45I (p.Met45Ile) variant of AQP4 (Aquaporin-4)
M45I (p.Met45Ile) in AQP4 (Aquaporin-4) is a missense change. 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.
M45I (p.Met45Ile) variant details
- p.Met45Ile
- gnomAD rs1225175406
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.36
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available