D6N (p.Asp6Asn) variant of CACNA1B (Q00975)
D6N (p.Asp6Asn) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D6N (p.Asp6Asn) variant details
- p.Asp6Asn
- cosmic curated COSV10458
- TOPMed rs1193183200
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.51
- MetaLR 0.86
- MetaSVM 0.76
- CADD 26.40
- PolyPhen-2 0.55
- SIFT 0.00
- Population evidence available
- Structural context available