R26W (p.Arg26Trp) variant of CCND1 (G1/S-specific cyclin-D1)
R26W (p.Arg26Trp) in CCND1 (G1/S-specific cyclin-D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital long QT syndrome. The record also includes variant effect predictions and structural context.
R26W (p.Arg26Trp) variant details
- p.Arg26Trp
- Ensembl rs2120080399
- Uncertain significance
- Congenital long QT syndrome
- Missense
- MetaLR 0.19
- MetaSVM -0.56
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available