V45I (p.Val45Ile) variant of CASQ2 (Calsequestrin-2)
V45I (p.Val45Ile) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
V45I (p.Val45Ile) variant details
- p.Val45Ile
- rs746405346
- ClinGen CA341767187
- ClinVar RCV002387676
- ExAC rs746405346
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.18
- MetaLR 0.08
- MetaSVM -1.03
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available