H16Y (p.His16Tyr) variant of GJB2 (Gap junction beta-2 protein)
H16Y (p.His16Tyr) in GJB2 (Gap junction beta-2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
H16Y (p.His16Tyr) variant details
- p.His16Tyr
- ExAC rs762466001
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.39
- MetaLR 0.87
- MetaSVM 0.36
- CADD 10.30
- PolyPhen-2 0.06
- SIFT 0.18
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available