G30R (p.Gly30Arg) variant of AQP1 (Aquaporin-1)
G30R (p.Gly30Arg) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- gnomAD 7-30911997-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.74
- MetaLR 0.94
- MetaSVM 1.07
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available