G30D (p.Gly30Asp) variant of AQP1 (Aquaporin-1)
G30D (p.Gly30Asp) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- gnomAD 7-30911998-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.76
- MetaLR 0.91
- MetaSVM 1.00
- CADD 26.30
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available