D126N (p.Asp126Asn) variant of CASQ2 (Calsequestrin-2)
D126N (p.Asp126Asn) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D126N (p.Asp126Asn) variant details
- p.Asp126Asn
- NCI-TCGA Cosmic COSV5477
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.47
- MetaLR 0.45
- MetaSVM -0.28
- CADD 25.30
- PolyPhen-2 0.82
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available