P59A (p.Pro59Ala) variant of CASQ2 (Calsequestrin-2)
P59A (p.Pro59Ala) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P59A (p.Pro59Ala) variant details
- p.Pro59Ala
- TOPMed rs866858282
- gnomAD rs866858282
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.23
- MetaLR 0.09
- MetaSVM -0.94
- CADD 22.20
- PolyPhen-2 0.59
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available