P58P (p.Pro58Pro) variant of GJB2 (Gap junction beta-2 protein)
P58P (p.Pro58Pro) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P58P (p.Pro58Pro) variant details
- p.Pro58Pro
- rs778922005
- gnomAD 13-20189408-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0828
- CADD 0.30
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available