M46L (p.Met46Leu) variant of AQP2 (Aquaporin-2)
M46L (p.Met46Leu) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
M46L (p.Met46Leu) variant details
- p.Met46Leu
- ExAC rs761515066
- gnomAD rs761515066
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.12
- AlphaMissense 0.17
- MetaLR 0.91
- MetaSVM 0.92
- CADD 0.25
- PolyPhen-2 0.98
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available