H53Q (p.His53Gln) variant of HCN1 (O60741)
H53Q (p.His53Gln) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Early-infantile DEE; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
H53Q (p.His53Gln) variant details
- p.His53Gln
- rs10066808
- ClinGen CA359706627
- ClinVar RCV004723367
- ClinVar RCV006562087
- Conflicting interpretations
- Inborn genetic diseases; Early-infantile DEE; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.27
- CADD 5.85
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 24; Early-infantile)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.026)
- 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)