D6D (p.Asp6Asp) variant of CACNA1B (Q00975)
D6D (p.Asp6Asp) in CACNA1B (Q00975) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D6D (p.Asp6Asp) variant details
- p.Asp6Asp
- rs757235316
- gnomAD 9-137877951-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 12.00
- Most common in the HGDP:ADYGEI population (allele frequency 0.067)
- Structural context available
- Literature evidence available