R121L (p.Arg121Leu) variant of CASQ2 (Calsequestrin-2)
R121L (p.Arg121Leu) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R121L (p.Arg121Leu) variant details
- p.Arg121Leu
- rs759805011
- ClinGen CA341764458
- ClinVar RCV002452352
- ExAC rs759805011
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.49
- MetaLR 0.33
- MetaSVM -0.34
- CADD 24.80
- PolyPhen-2 0.68
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available