F42I (p.Phe42Ile) variant of CASQ2 (Calsequestrin-2)
F42I (p.Phe42Ile) 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.
F42I (p.Phe42Ile) variant details
- p.Phe42Ile
- TOPMed rs1649203256
- gnomAD rs1649203256
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.17
- MetaLR 0.05
- MetaSVM -1.09
- CADD 24.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available