A16V (p.Ala16Val) variant of AQP1 (Aquaporin-1)
A16V (p.Ala16Val) in AQP1 (Aquaporin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- gnomAD rs1291941073
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.88
- MetaLR 0.88
- MetaSVM 0.95
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available