K48N (p.Lys48Asn) variant of CASQ2 (Calsequestrin-2)
K48N (p.Lys48Asn) 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 0.33 / 1. The record also includes population frequency data and structural context.
K48N (p.Lys48Asn) variant details
- p.Lys48Asn
- ExAC rs777384250
- gnomAD rs777384250
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.39
- MetaLR 0.27
- MetaSVM -0.70
- CADD 22.80
- PolyPhen-2 0.72
- SIFT 0.04
- ClinVar: Likely benign (Cardiovascular phenotype)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available