G47V (p.Gly47Val) variant of HCN1 (O60741)
G47V (p.Gly47Val) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Early-infantile DEE; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G47V (p.Gly47Val) variant details
- p.Gly47Val
- rs544994462
- ClinGen CA238962
- cosmic curated COSV57523
- ClinVar RCV000173511
- Benign/Likely benign
- Early-infantile DEE; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.38
- CADD 16.50
- PolyPhen-2 0.08
- SIFT 0.14
- ClinVar: Benign/Likely benign (Early-infantile DEE; not provided; not specified)
- EBI: Benign (in DEE24)
- UniProt: Benign (in DEE24)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: De novo mutations in HCN1 cause early infantile epileptic encephalopathy. (PMID 24747641)
- Cited in: Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative… (PMID 27864847)