V61L (p.Val61Leu) variant of HCN1 (O60741)
V61L (p.Val61Leu) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Early-infantile DEE; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V61L (p.Val61Leu) variant details
- p.Val61Leu
- rs900254081
- ClinGen CA118329975
- ClinVar RCV002554634
- ClinVar RCV006465287
- Likely benign
- Early-infantile DEE; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.27
- AlphaMissense 0.19
- MetaLR 0.71
- MetaSVM -0.10
- CADD 17.40
- PolyPhen-2 0.00
- ClinVar: Likely benign (Early-infantile DEE; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.0014)
- 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)