A88S (p.Ala88Ser) variant of CASQ2 (Calsequestrin-2)
A88S (p.Ala88Ser) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A88S (p.Ala88Ser) variant details
- p.Ala88Ser
- gnomAD rs1648330430
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -1.02
- CADD 20.50
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available