M93V (p.Met93Val) variant of CASQ2 (Calsequestrin-2)
M93V (p.Met93Val) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar 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 0.33 / 1. The record also includes population frequency data and structural context.
M93V (p.Met93Val) variant details
- p.Met93Val
- TOPMed rs1250403818
- gnomAD rs1250403818
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.27
- MetaLR 0.15
- MetaSVM -0.89
- CADD 21.40
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available