K24N (p.Lys24Asn) variant of HCN1 (O60741)
K24N (p.Lys24Asn) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K24N (p.Lys24Asn) variant details
- p.Lys24Asn
- rs2478645008
- ClinGen CA359706802
- ClinVar RCV006561794
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.20
- CADD 18.20
- PolyPhen-2 0.05
- SIFT 0.18
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available