S61F (p.Ser61Phe) variant of CASQ2 (Calsequestrin-2)
S61F (p.Ser61Phe) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S61F (p.Ser61Phe) variant details
- p.Ser61Phe
- ExAC rs760575933
- gnomAD rs760575933
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.17
- MetaLR 0.12
- MetaSVM -0.94
- CADD 26.00
- PolyPhen-2 0.64
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available