R275W (p.Arg275Trp) variant of SMC1A (Q14683)
R275W (p.Arg275Trp) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R275W (p.Arg275Trp) variant details
- p.Arg275Trp
- rs781812690
- ClinGen CA10420635
- ClinVar RCV002009121
- ClinVar RCV005925503
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.66
- MetaSVM 0.43
- CADD 27.00
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-06)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)