C54F (p.Cys54Phe) variant of GJA5 (Gap junction alpha-5 protein)
C54F (p.Cys54Phe) in GJA5 (Gap junction alpha-5 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and published literature.
C54F (p.Cys54Phe) variant details
- p.Cys54Phe
- gnomAD 1-147759070-TCGTA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available