G40R (p.Gly40Arg) variant of AQP1 (Aquaporin-1)
G40R (p.Gly40Arg) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G40R (p.Gly40Arg) variant details
- p.Gly40Arg
- TOPMed rs1370673845
- gnomAD rs1370673845
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.26
- MetaLR 0.47
- MetaSVM -0.70
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available