Q71P (p.Gln71Pro) variant of CASQ2 (Calsequestrin-2)
Q71P (p.Gln71Pro) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Q71P (p.Gln71Pro) variant details
- p.Gln71Pro
- ExAC rs768702390
- TOPMed rs768702390
- gnomAD rs768702390
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.21
- MetaLR 0.16
- MetaSVM -0.83
- CADD 24.80
- PolyPhen-2 0.87
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available