R19T (p.Arg19Thr) variant of AQP4 (Aquaporin-4)
R19T (p.Arg19Thr) in AQP4 (Aquaporin-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of AQP4-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R19T (p.Arg19Thr) variant details
- p.Arg19Thr
- rs150587304
- ClinGen CA8922713
- ClinVar RCV003924432
- ESP rs150587304
- Likely benign
- AQP4-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.47
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Likely benign (AQP4-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0046)
- Structural context available