A13V (p.Ala13Val) variant of AQP1 (Aquaporin-1)
A13V (p.Ala13Val) in AQP1 (Aquaporin-1) 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
- TOPMed rs1791175000
- gnomAD rs1791175000
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.74
- MetaLR 0.81
- MetaSVM 0.78
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available