V135M (p.Val135Met) variant of CASQ2 (Calsequestrin-2)
V135M (p.Val135Met) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V135M (p.Val135Met) variant details
- p.Val135Met
- TOPMed rs1371033125
- gnomAD rs1371033125
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.65
- MetaLR 0.69
- MetaSVM 0.47
- CADD 26.50
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available