K24E (p.Lys24Glu) variant of HCN1 (O60741)
K24E (p.Lys24Glu) in HCN1 (O60741) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K24E (p.Lys24Glu) variant details
- p.Lys24Glu
- cosmic curated COSV57540
- gnomAD rs1316303062
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.25
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Early-infantile DEE)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available