A13V (p.Ala13Val) variant of AQP5 (Aquaporin-5)
A13V (p.Ala13Val) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- ExAC rs770591290
- TOPMed rs770591290
- gnomAD rs770591290
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.72
- CADD 24.60
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available