F4F (p.Phe4Phe) variant of CACNA1E (Q15878)
F4F (p.Phe4Phe) in CACNA1E (Q15878) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
F4F (p.Phe4Phe) variant details
- p.Phe4Phe
- rs1228809248
- gnomAD 1-181483756-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 13.40
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available