T66A (p.Thr66Ala) variant of CASQ2 (Calsequestrin-2)
T66A (p.Thr66Ala) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T66A (p.Thr66Ala) variant details
- p.Thr66Ala
- rs2526105980
- ClinGen CA2580060843
- ClinVar RCV002421722
- Benign
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.09
- MetaLR 0.01
- MetaSVM -0.94
- CADD 2.11
- PolyPhen-2 0.00
- SIFT 0.72
- ClinVar: Benign (Cardiovascular phenotype)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SHE population (allele frequency 0.83)
- 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)