L46F (p.Leu46Phe) variant of AQP4 (Aquaporin-4)
L46F (p.Leu46Phe) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L46F (p.Leu46Phe) variant details
- p.Leu46Phe
- ExAC rs768884671
- gnomAD rs768884671
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.26
- CADD 19.00
- PolyPhen-2 0.02
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available