E335D (p.Glu335Asp) variant of SMC1A (Q14683)
E335D (p.Glu335Asp) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
E335D (p.Glu335Asp) variant details
- p.Glu335Asp
- rs2520957574
- ClinGen CA413257482
- ClinVar RCV003625889
- Benign
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- ESM-1b 0.00
- AlphaMissense 0.18
- ClinVar: Benign (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)