R19I (p.Arg19Ile) variant of AQP4 (Aquaporin-4)
R19I (p.Arg19Ile) in AQP4 (Aquaporin-4) 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 0.47 / 1. The record also includes population frequency data and structural context.
R19I (p.Arg19Ile) variant details
- p.Arg19Ile
- ESP rs150587304
- ExAC rs150587304
- TOPMed rs150587304
- gnomAD rs150587304
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.50
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00048)
- Structural context available