H57R (p.His57Arg) variant of CASQ2 (Calsequestrin-2)
H57R (p.His57Arg) 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.
H57R (p.His57Arg) variant details
- p.His57Arg
- Ensembl rs1649202216
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.85
- MetaLR 0.60
- MetaSVM 0.36
- CADD 25.40
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available