G90D (p.Gly90Asp) variant of CASQ2 (Calsequestrin-2)
G90D (p.Gly90Asp) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
G90D (p.Gly90Asp) variant details
- p.Gly90Asp
- ExAC rs748926974
- gnomAD rs748926974
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.76
- MetaLR 0.65
- MetaSVM 0.16
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available