T27A (p.Thr27Ala) variant of CASQ2 (Calsequestrin-2)
T27A (p.Thr27Ala) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T27A (p.Thr27Ala) variant details
- p.Thr27Ala
- gnomAD rs1455667839
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.10
- MetaLR 0.13
- MetaSVM -1.04
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available