E19E (p.Glu19Glu) variant of CACNA1B (Q00975)
E19E (p.Glu19Glu) in CACNA1B (Q00975) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E19E (p.Glu19Glu) variant details
- p.Glu19Glu
- rs191962352
- gnomAD 9-137877990-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 12.90
- Most common in the HGDP:MAKRANI population (allele frequency 0.26)
- Structural context available
- Literature evidence available