H307R (p.His307Arg) variant of SMC1A (Q14683)
H307R (p.His307Arg) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
H307R (p.His307Arg) variant details
- p.His307Arg
- rs1556890616
- ClinGen CA413257876
- ClinVar RCV000556180
- Ensembl rs1556890616
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.55
- MetaSVM 0.12
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)