R255C (p.Arg255Cys) variant of SMC1A (Q14683)
R255C (p.Arg255Cys) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R255C (p.Arg255Cys) variant details
- p.Arg255Cys
- rs782209409
- ClinGen CA10420638
- cosmic curated COSV10815
- ClinVar RCV001320460
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.22
- MetaLR 0.56
- MetaSVM 0.22
- CADD 25.70
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)