E7K (p.Glu7Lys) variant of CACNA1B (Q00975)
E7K (p.Glu7Lys) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- TOPMed rs1182464278
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.38
- MetaLR 0.78
- MetaSVM 0.26
- CADD 22.50
- PolyPhen-2 0.20
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available