H7Y (p.His7Tyr) variant of GJB6 (Gap junction beta-6 protein)
H7Y (p.His7Tyr) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
H7Y (p.His7Tyr) variant details
- p.His7Tyr
- rs140734037
- ClinGen CA6904528
- ClinVar RCV001537028
- ESP rs140734037
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 8.92
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)