P36Q (p.Pro36Gln) variant of AQP5 (Aquaporin-5)
P36Q (p.Pro36Gln) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P36Q (p.Pro36Gln) variant details
- p.Pro36Gln
- ExAC rs757913702
- TOPMed rs757913702
- gnomAD rs757913702
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.53
- CADD 21.80
- PolyPhen-2 0.35
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available