T4I (p.Thr4Ile) variant of CASQ2 (Calsequestrin-2)
T4I (p.Thr4Ile) 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 0.20 / 1. The record also includes population frequency data and structural context.
T4I (p.Thr4Ile) variant details
- p.Thr4Ile
- rs200558909
- ClinGen CA236677
- ClinVar RCV000171635
- ExAC rs200558909
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.02
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available