P65L (p.Pro65Leu) variant of AQP4 (Aquaporin-4)
P65L (p.Pro65Leu) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P65L (p.Pro65Leu) variant details
- p.Pro65Leu
- ExAC rs773287416
- gnomAD rs773287416
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.48
- CADD 22.80
- PolyPhen-2 0.13
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available