R208W (p.Arg208Trp) variant of SMC1A (Q14683)
R208W (p.Arg208Trp) 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 0.77 / 1. The record also includes population frequency data and structural context.
R208W (p.Arg208Trp) variant details
- p.Arg208Trp
- cosmic curated COSV59131
- gnomAD rs1057520375
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.61
- MetaSVM 0.35
- CADD 29.30
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available