T4S (p.Thr4Ser) variant of CASQ2 (Calsequestrin-2)
T4S (p.Thr4Ser) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
T4S (p.Thr4Ser) variant details
- p.Thr4Ser
- rs747077051
- ClinGen CA301916
- ClinVar RCV000170897
- TOPMed rs747077051
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -1.00
- CADD 6.16
- PolyPhen-2 0.00
- SIFT 0.86
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available