L134W (p.Leu134Trp) variant of CASQ2 (Calsequestrin-2)
L134W (p.Leu134Trp) 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 0.60 / 1. The record also includes population frequency data and structural context.
L134W (p.Leu134Trp) variant details
- p.Leu134Trp
- rs2526018580
- ClinGen CA341764372
- ClinVar RCV003368084
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.62
- MetaLR 0.32
- MetaSVM -0.30
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available