P1547L (p.Pro1547Leu) variant of SYNJ1 (O43426)
P1547L (p.Pro1547Leu) in SYNJ1 (O43426) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; not specified; Developmental and epileptic encephalopathy, 53. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P1547L (p.Pro1547Leu) variant details
- p.Pro1547Leu
- rs2230767
- ClinGen CA10003055
- ClinVar RCV000713734
- ClinVar RCV001084764
- Benign/Likely benign
- not provided; not specified; Developmental and epileptic encephalopathy, 53
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 16.10
- SIFT 0.10
- ClinVar: Benign/Likely benign (not provided; not specified; Developmental and epileptic encepha)
- EBI: Likely benign (in dbSNP:rs2230767)
- UniProt: Likely benign (in dbSNP:rs2230767)
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- 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)