D581N (p.Asp581Asn) variant of CACNA2D2 (Q9NY47)
D581N (p.Asp581Asn) in CACNA2D2 (Q9NY47) 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 0.73 / 1. The record also includes structural context.
D581N (p.Asp581Asn) variant details
- p.Asp581Asn
- rs1419557043
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56568
- TOPMed rs1419557043
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- AlphaMissense 0.92
- MetaLR 0.69
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.68
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available