M981I (p.Met981Ile) variant of SYNJ1 (O43426)
M981I (p.Met981Ile) in SYNJ1 (O43426) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
M981I (p.Met981Ile) variant details
- p.Met981Ile
- rs115683257
- ClinGen CA10003539
- ClinVar RCV000655774
- ClinVar RCV001662715
- Benign/Likely benign
- Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- MetaLR 0.46
- MetaSVM -0.48
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Benign/Likely benign (Early-onset Parkinson disease 20; Developmental and epileptic en)
- EBI: Benign (in DEE53)
- UniProt: Benign (in DEE53)
- Most common in the African/African-American population (allele frequency 3e-05)
- Cited in: Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. (PMID 27435091)