Q90K (p.Gln90Lys) variant of HCN1 (O60741)
Q90K (p.Gln90Lys) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q90K (p.Gln90Lys) variant details
- p.Gln90Lys
- rs2112109013
- ClinGen CA2573139746
- ClinVar RCV006469423
- Ensembl rs2112109013
- Likely benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.30
- AlphaMissense 0.82
- MetaLR 0.36
- MetaSVM -0.52
- CADD 23.50
- PolyPhen-2 0.04
- ClinVar: Likely benign (Early-infantile DEE)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available