E7E (p.Glu7Glu) variant of CACNA1B (Q00975)
E7E (p.Glu7Glu) in CACNA1B (Q00975) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E7E (p.Glu7Glu) variant details
- p.Glu7Glu
- rs1482970800
- gnomAD 9-137877954-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 9.12
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Literature evidence available