R895G (p.Arg895Gly) variant of SMC1A (Q14683)
R895G (p.Arg895Gly) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 85, with or without midline brain de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
R895G (p.Arg895Gly) variant details
- p.Arg895Gly
- rs2075651835
- ClinGen CA413248562
- ClinVar RCV001072130
- ClinVar RCV005913605
- Pathogenic
- Developmental and epileptic encephalopathy, 85, with or without midline brain de
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.67
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 85, with or without)
- EBI: Pathogenic (in DEE85)
- UniProt: Pathogenic (in DEE85)
- Structural context available
- Cited in: Cohesin complex-associated holoprosencephaly. (PMID 31334757)
- Cited in: Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in… (PMID 28166369)