I116V (p.Ile116Val) variant of CASQ2 (Calsequestrin-2)
I116V (p.Ile116Val) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar 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 0.15 / 1. The record also includes population frequency data and structural context.
I116V (p.Ile116Val) variant details
- p.Ile116Val
- Ensembl rs774156364
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.19
- MetaLR 0.04
- MetaSVM -0.89
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Cardiovascular phenotype)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available