D50N (p.Asp50Asn) variant of CASQ2 (Calsequestrin-2)
D50N (p.Asp50Asn) 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 0.26 / 1. The record also includes population frequency data and structural context.
D50N (p.Asp50Asn) variant details
- p.Asp50Asn
- TOPMed rs1396184953
- gnomAD rs1396184953
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.14
- MetaLR 0.23
- MetaSVM -0.74
- CADD 20.70
- PolyPhen-2 0.34
- SIFT 0.05
- ClinVar: Likely benign (Cardiovascular phenotype)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available