F13S (p.Phe13Ser) variant of CASQ2 (Calsequestrin-2)
F13S (p.Phe13Ser) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
F13S (p.Phe13Ser) variant details
- p.Phe13Ser
- rs2526106667
- ClinGen CA341767396
- ClinVar RCV002366406
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.25
- MetaLR 0.18
- MetaSVM -0.83
- CADD 23.20
- PolyPhen-2 0.29
- SIFT 0.39
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available