G70D (p.Gly70Asp) variant of HCN1 (O60741)
G70D (p.Gly70Asp) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Generalized epilepsy with febrile seizures plus, type 10; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G70D (p.Gly70Asp) variant details
- p.Gly70Asp
- rs1269949873
- ClinGen CA359706519
- ClinVar RCV005871196
- ClinVar RCV006562085
- Uncertain significance
- Generalized epilepsy with febrile seizures plus, type 10; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.36
- CADD 20.10
- PolyPhen-2 0.93
- SIFT 0.59
- ClinVar: Uncertain significance (Generalized epilepsy with febrile seizures plus, type 10; Early-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available