Q47R (p.Gln47Arg) variant of AQP1 (Aquaporin-1)
Q47R (p.Gln47Arg) in AQP1 (Aquaporin-1) is a missense change. Clinical records from ClinVar, EBI, 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 0.71 / 1. The record also includes population frequency data and structural context.
Q47R (p.Gln47Arg) variant details
- p.Gln47Arg
- rs377506522
- ClinGen CA4208050
- ClinVar RCV003563304
- ESP rs377506522
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.76
- MetaLR 0.70
- MetaSVM 0.46
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0019)
- Structural context available