Q53Q (p.Gln53Gln) variant of CACNA1C (Q13936)
Q53Q (p.Gln53Gln) in CACNA1C (Q13936) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and published literature.
Q53Q (p.Gln53Gln) variant details
- p.Gln53Gln
- rs1286705069
- gnomAD 12-1971173-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.69
- Most common in the African/African-American population (allele frequency 4.1e-05)
- Literature evidence available