G34R (p.Gly34Arg) variant of AQP1 (Aquaporin-1)
G34R (p.Gly34Arg) 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 and structural context.
G34R (p.Gly34Arg) variant details
- p.Gly34Arg
- gnomAD rs1283558986
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.78
- MetaLR 0.76
- MetaSVM 0.58
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available