G65C (p.Gly65Cys) variant of AQP5 (Aquaporin-5)
G65C (p.Gly65Cys) in AQP5 (Aquaporin-5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G65C (p.Gly65Cys) variant details
- p.Gly65Cys
- ESP rs147337355
- ExAC rs147337355
- TOPMed rs147337355
- gnomAD rs147337355
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.90
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available