G65S (p.Gly65Ser) variant of AQP5 (Aquaporin-5)
G65S (p.Gly65Ser) in AQP5 (Aquaporin-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. 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.
G65S (p.Gly65Ser) variant details
- p.Gly65Ser
- rs147337355
- ClinGen CA6559432
- ClinVar RCV003561435
- ClinVar RCV006382033
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.91
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available