M23I (p.Met23Ile) variant of AQP4 (Aquaporin-4)
M23I (p.Met23Ile) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
M23I (p.Met23Ile) variant details
- p.Met23Ile
- TOPMed rs1476758680
- gnomAD rs1476758680
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.74
- CADD 23.60
- PolyPhen-2 0.30
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available