I142T (p.Ile142Thr) variant of CASQ2 (Calsequestrin-2)
I142T (p.Ile142Thr) in CASQ2 (Calsequestrin-2) is a missense change. 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.
I142T (p.Ile142Thr) variant details
- p.Ile142Thr
- TOPMed rs1648036573
- gnomAD rs1648036573
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.40
- MetaLR 0.28
- MetaSVM -0.63
- CADD 24.80
- PolyPhen-2 0.64
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available