G60D (p.Gly60Asp) variant of AQP4 (Aquaporin-4)
G60D (p.Gly60Asp) in AQP4 (Aquaporin-4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G60D (p.Gly60Asp) variant details
- p.Gly60Asp
- ExAC rs200232760
- TOPMed rs200232760
- gnomAD rs200232760
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.40
- CADD 21.80
- PolyPhen-2 0.12
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available