G30S (p.Gly30Ser) variant of AQP1 (Aquaporin-1)
G30S (p.Gly30Ser) in AQP1 (Aquaporin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- 1000Genomes rs147526690
- ESP rs147526690
- ExAC rs147526690
- TOPMed rs147526690
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.48
- MetaLR 0.81
- MetaSVM 0.54
- CADD 24.80
- PolyPhen-2 0.56
- SIFT 0.75
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available