P87S (p.Pro87Ser) variant of HCN1 (O60741)
P87S (p.Pro87Ser) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P87S (p.Pro87Ser) variant details
- p.Pro87Ser
- rs370113959
- ClinGen CA3259486
- cosmic curated COSV10029
- ClinVar RCV002316539
- Benign/Likely benign
- Early-infantile DEE; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.24
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Benign/Likely benign (Early-infantile DEE; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)