H8Y (p.His8Tyr) variant of KCNB1 (Q14721)
H8Y (p.His8Tyr) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of KCNB1-related disorder. The record also includes structural context.
H8Y (p.His8Tyr) variant details
- p.His8Tyr
- rs2516924772
- ClinGen CA408952505
- ClinVar RCV004528655
- Uncertain significance
- KCNB1-related disorder
- Missense
- ClinVar: Uncertain significance (KCNB1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available