D32N (p.Asp32Asn) variant of CASQ2 (Calsequestrin-2)
D32N (p.Asp32Asn) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
D32N (p.Asp32Asn) variant details
- p.Asp32Asn
- rs147941846
- ClinGen CA301922
- ClinVar RCV000170899
- Ensembl rs147941846
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- AlphaMissense 0.27
- MetaLR 0.70
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.41
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available