R131C (p.Arg131Cys) variant of SMC1A (Q14683)
R131C (p.Arg131Cys) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R131C (p.Arg131Cys) variant details
- p.Arg131Cys
- rs2520969249
- ClinGen CA413131436
- ClinVar RCV003055605
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.80
- MetaSVM 0.88
- CADD 25.70
- 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 3.6e-06)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)