S36N (p.Ser36Asn) variant of CASQ2 (Calsequestrin-2)
S36N (p.Ser36Asn) 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 0.30 / 1. The record also includes structural context.
S36N (p.Ser36Asn) variant details
- p.Ser36Asn
- rs1649204142
- ClinGen CA341767250
- ClinVar RCV004160251
- TOPMed rs1649204142
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.08
- PolyPhen-2 0.00
- SIFT 0.64
- EVE 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available