R3T (p.Arg3Thr) variant of CASQ2 (Calsequestrin-2)
R3T (p.Arg3Thr) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R3T (p.Arg3Thr) variant details
- p.Arg3Thr
- ExAC rs780771730
- TOPMed rs780771730
- gnomAD rs780771730
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -1.04
- CADD 15.60
- PolyPhen-2 0.03
- SIFT 0.75
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available