V34M (p.Val34Met) variant of CASQ2 (Calsequestrin-2)
V34M (p.Val34Met) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
V34M (p.Val34Met) variant details
- p.Val34Met
- gnomAD rs1338492317
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.55
- MetaLR 0.36
- MetaSVM -0.24
- CADD 28.30
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available