D92G (p.Asp92Gly) variant of HCN4 (Q9Y3Q4)
D92G (p.Asp92Gly) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Epilepsy, idiopathic generalized, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
D92G (p.Asp92Gly) variant details
- p.Asp92Gly
- rs2549080544
- ClinGen CA393098517
- ClinVar RCV004547271
- ClinVar RCV004621955
- Uncertain significance
- Cardiovascular phenotype; Epilepsy, idiopathic generalized, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.60
- MetaLR 0.95
- MetaSVM 1.08
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Epilepsy, idiopathic generalized, susc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available