M93I (p.Met93Ile) variant of CASQ2 (Calsequestrin-2)
M93I (p.Met93Ile) 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 0.40 / 1. The record also includes population frequency data and structural context.
M93I (p.Met93Ile) variant details
- p.Met93Ile
- rs2526031912
- ClinGen CA341765412
- ClinVar RCV003176955
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.32
- MetaLR 0.26
- MetaSVM -0.67
- CADD 23.20
- PolyPhen-2 0.41
- SIFT 0.37
- 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