P36L (p.Pro36Leu) variant of AQP5 (Aquaporin-5)
P36L (p.Pro36Leu) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- ExAC rs757913702
- TOPMed rs757913702
- gnomAD rs757913702
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.56
- CADD 22.40
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available