G271D (p.Gly271Asp) variant of SMC1A (Q14683)
G271D (p.Gly271Asp) 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 0.71 / 1. The record also includes published literature and structural context.
G271D (p.Gly271Asp) variant details
- p.Gly271Asp
- rs2146605306
- ClinGen CA413258347
- ClinVar RCV001963542
- Ensembl rs2146605306
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.61
- MetaSVM 0.37
- PolyPhen-2 0.90
- 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)