Y27del (p.Tyr27del) variant of CACNA1D (Q01668)
Y27del (p.Tyr27del) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Y27del (p.Tyr27del) variant details
- gnomAD 3-53329382-GATA-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 16.20
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available