G80D (p.Gly80Asp) variant of HCN1 (O60741)
G80D (p.Gly80Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G80D (p.Gly80Asp) variant details
- p.Gly80Asp
- rs1252720341
- ClinGen CA359706459
- ClinVar RCV000594451
- ClinVar RCV006463483
- Uncertain significance
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.24
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Early-infantile DEE; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available