M70L (p.Met70Leu) variant of AQP4 (Aquaporin-4)
M70L (p.Met70Leu) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
M70L (p.Met70Leu) variant details
- p.Met70Leu
- ExAC rs776865043
- gnomAD rs776865043
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.26
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available