M94V (p.Met94Val) variant of HCN1 (O60741)
M94V (p.Met94Val) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Early-infantile DEE; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
M94V (p.Met94Val) variant details
- p.Met94Val
- rs773441535
- ClinGen CA3259478
- ClinVar RCV004972888
- ClinVar RCV006463978
- Conflicting interpretations
- Early-infantile DEE; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.39
- AlphaMissense 0.78
- MetaLR 0.38
- MetaSVM -0.32
- CADD 23.00
- PolyPhen-2 0.05
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; Inborn genetic diseases)
- 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)