D16N (p.Asp16Asn) variant of HCN1 (O60741)
D16N (p.Asp16Asn) 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 0.44 / 1. The record also includes population frequency data and structural context.
D16N (p.Asp16Asn) variant details
- p.Asp16Asn
- rs1283834151
- ClinGen CA359706861
- ClinVar RCV006464394
- gnomAD rs1283834151
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.27
- AlphaMissense 0.07
- MetaLR 0.66
- MetaSVM -0.16
- CADD 23.60
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available