D252E (p.Asp252Glu) variant of SMC1A (Q14683)
D252E (p.Asp252Glu) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D252E (p.Asp252Glu) variant details
- p.Asp252Glu
- rs370671274
- ClinGen CA413258561
- ClinVar RCV001270902
- ESP rs370671274
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.05
- MetaSVM -1.08
- CADD 11.30
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)