P70P (p.Pro70Pro) variant of GJB6 (Gap junction beta-6 protein)
P70P (p.Pro70Pro) in GJB6 (Gap junction beta-6 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 and published literature.
P70P (p.Pro70Pro) variant details
- p.Pro70Pro
- rs575963681
- gnomAD 13-20223271-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0802
- CADD 0.27
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Literature evidence available