P33F (p.Pro33Phe) variant of CACNA1D (Q01668)
P33F (p.Pro33Phe) in CACNA1D (Q01668) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P33F (p.Pro33Phe) variant details
- p.Pro33Phe
- gnomAD 3-53329318-C-CTTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 23.80
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available