M45R (p.Met45Arg) variant of AQP4 (Aquaporin-4)
M45R (p.Met45Arg) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
M45R (p.Met45Arg) variant details
- p.Met45Arg
- gnomAD 18-26862495-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.68
- MetaLR 0.71
- MetaSVM 0.16
- CADD 23.40
- PolyPhen-2 0.14
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available