K295R (p.Lys295Arg) variant of SYNJ1 (O43426)
K295R (p.Lys295Arg) in SYNJ1 (O43426) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Developmental and epileptic encephalopathy, 53; Early-onset Parkinson disease 20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and published literature.
K295R (p.Lys295Arg) variant details
- p.Lys295Arg
- rs2254562
- ClinGen CA10004008
- cosmic curated COSV59145
- ClinVar RCV000713723
- Benign
- Developmental and epileptic encephalopathy, 53; Early-onset Parkinson disease 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- MetaLR 0.00
- MetaSVM -1.10
- CADD 26.20
- PolyPhen-2 0.22
- SIFT 0.00
- ClinVar: Benign (Developmental and epileptic encephalopathy, 53; Early-onset Park)
- EBI: Benign (in dbSNP:rs2254562)
- UniProt: Benign (in dbSNP:rs2254562)
- Most common in the HGDP:HEZHEN population (allele frequency 0.69)
- Cited in: Identification of SYNJ1 in a Complex Case of Juvenile Parkinsonism Using a Multiomics Approach. (PMID 39273702)
- Cited in: Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course. (PMID 30217166)