D6T (p.Asp6Thr) variant of CACNA1B (Q00975)
D6T (p.Asp6Thr) in CACNA1B (Q00975) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
D6T (p.Asp6Thr) variant details
- p.Asp6Thr
- gnomAD 9-137877945-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.819
- CADD 25.50
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available