E90D (p.Glu90Asp) variant of SMC1A (Q14683)
E90D (p.Glu90Asp) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E90D (p.Glu90Asp) variant details
- p.Glu90Asp
- rs781811085
- ClinGen CA10420693
- ClinVar RCV002895150
- ExAC rs781811085
- Benign
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.08
- MetaSVM -1.02
- CADD 14.10
- ClinVar: Benign (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00076)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)