A25E (p.Ala25Glu) variant of HCN1 (O60741)
A25E (p.Ala25Glu) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Developmental and epileptic encephalopathy, 24; Early-infantile D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A25E (p.Ala25Glu) variant details
- p.Ala25Glu
- rs1469192494
- ClinGen CA359706797
- ClinVar RCV001336535
- ClinVar RCV004978354
- Conflicting interpretations
- not specified; Developmental and epileptic encephalopathy, 24; Early-infantile D
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.21
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.98
- ClinVar: Conflicting classifications of pathogenicity (not specified; Developmental and epileptic encephalopathy, 24; E)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.2e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)