D69V (p.Asp69Val) variant of AQP4 (Aquaporin-4)
D69V (p.Asp69Val) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
D69V (p.Asp69Val) variant details
- p.Asp69Val
- ExAC rs746127378
- TOPMed rs746127378
- gnomAD rs746127378
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.79
- CADD 23.80
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available