V76M (p.Val76Met) variant of CASQ2 (Calsequestrin-2)
V76M (p.Val76Met) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
V76M (p.Val76Met) variant details
- p.Val76Met
- rs10801999
- ClinGen CA282349
- ClinVar RCV000037138
- ClinVar RCV000253496
- Benign/Likely benign
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.25
- MetaLR 0.53
- MetaSVM -0.05
- CADD 20.60
- PolyPhen-2 0.31
- SIFT 0.00
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PIMA population (allele frequency 0.41)
- Structural context available
- Cited in: Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac… (PMID 14571276)
- Cited in: Characterization of human cardiac calsequestrin and its deleterious mutants. (PMID 17881003)