G30C (p.Gly30Cys) variant of AQP5 (Aquaporin-5)
G30C (p.Gly30Cys) in AQP5 (Aquaporin-5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G30C (p.Gly30Cys) variant details
- p.Gly30Cys
- TOPMed rs139623970
- gnomAD rs139623970
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.74
- CADD 26.20
- PolyPhen-2 0.70
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available