M45V (p.Met45Val) variant of AQP4 (Aquaporin-4)
M45V (p.Met45Val) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
M45V (p.Met45Val) variant details
- p.Met45Val
- gnomAD rs1304612448
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.39
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available