S35K (p.Ser35Lys) variant of CACNA1D (Q01668)
S35K (p.Ser35Lys) in CACNA1D (Q01668) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S35K (p.Ser35Lys) variant details
- p.Ser35Lys
- gnomAD 3-53329399-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available