P42S (p.Pro42Ser) variant of HCN1 (O60741)
P42S (p.Pro42Ser) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Early-infantile DEE; not provided; Inborn genetic diseases. 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.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- rs56164833
- ClinGen CA16611919
- ClinVar RCV000513246
- ClinVar RCV002318494
- Benign/Likely benign
- Early-infantile DEE; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.35
- CADD 19.70
- PolyPhen-2 0.03
- SIFT 0.24
- ClinVar: Benign/Likely benign (Early-infantile DEE; not provided; Inborn genetic diseases)
- EBI: Benign (in dbSNP:rs56164833)
- UniProt: Benign (in dbSNP:rs56164833)
- Most common in the Non-Finnish European population (allele frequency 0.00065)
- 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)