H15R (p.His15Arg) variant of GJA5 (Gap junction alpha-5 protein)
H15R (p.His15Arg) in GJA5 (Gap junction alpha-5 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and published literature.
H15R (p.His15Arg) variant details
- p.His15Arg
- gnomAD 1-147759181-CGGTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 26.90
- Most common in the African/African-American population (allele frequency 3e-05)
- Literature evidence available