F42S (p.Phe42Ser) variant of CASQ2 (Calsequestrin-2)
F42S (p.Phe42Ser) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
F42S (p.Phe42Ser) variant details
- p.Phe42Ser
- gnomAD rs1446792848
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.27
- MetaLR 0.08
- MetaSVM -1.02
- CADD 30.00
- PolyPhen-2 0.52
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available