H73Y (p.His73Tyr) variant of GJB6 (Gap junction beta-6 protein)
H73Y (p.His73Tyr) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
H73Y (p.His73Tyr) variant details
- p.His73Tyr
- gnomAD 13-20223264-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- MetaLR 0.99
- MetaSVM 1.02
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available