Q53P (p.Gln53Pro) variant of CACNA1C (Q13936)
Q53P (p.Gln53Pro) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and published literature.
Q53P (p.Gln53Pro) variant details
- p.Gln53Pro
- gnomAD 12-1971172-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 22.80
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Literature evidence available