M94I (p.Met94Ile) variant of HCN1 (O60741)
M94I (p.Met94Ile) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
M94I (p.Met94Ile) variant details
- p.Met94Ile
- rs748665278
- ExAC rs748665278
- TOPMed rs748665278
- gnomAD rs748665278
- Conflicting interpretations
- not specified; Developmental and epileptic encephalopathy, 24; Early-infantile D
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.42
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (not specified; Developmental and epileptic encephalopathy, 24; E)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)