V60L (p.Val60Leu) variant of CASQ2 (Calsequestrin-2)
V60L (p.Val60Leu) 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 0.18 / 1. The record also includes population frequency data and structural context.
V60L (p.Val60Leu) variant details
- p.Val60Leu
- rs1649201569
- ClinGen CA341767082
- ClinVar RCV002404201
- TOPMed rs1649201569
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.05
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.72
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available