E19K (p.Glu19Lys) variant of CACNA1B (Q00975)
E19K (p.Glu19Lys) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- Ensembl rs2133211254
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.31
- MetaLR 0.64
- MetaSVM 0.00
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available