K24T (p.Lys24Thr) variant of HCN1 (O60741)
K24T (p.Lys24Thr) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The record also includes structural context.
K24T (p.Lys24Thr) variant details
- p.Lys24Thr
- rs2478645011
- ClinGen CA359706805
- ClinVar RCV006563499
- Uncertain significance
- Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available