N4del (p.Asn4del) variant of CACNA1D (Q01668)
N4del (p.Asn4del) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
N4del (p.Asn4del) variant details
- gnomAD 3-53329314-GAAC-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 17.30
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available