P7R (p.Pro7Arg) variant of HCN1 (O60741)
P7R (p.Pro7Arg) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P7R (p.Pro7Arg) variant details
- p.Pro7Arg
- rs1156299203
- ClinGen CA359706921
- ClinVar RCV004066199
- ClinVar RCV006612032
- Conflicting interpretations
- Early-infantile DEE; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.30
- AlphaMissense 0.07
- MetaLR 0.63
- MetaSVM -0.24
- CADD 18.70
- PolyPhen-2 0.01
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)