C1115F (p.Cys1115Phe) variant of SMC1A (Q14683)
C1115F (p.Cys1115Phe) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
C1115F (p.Cys1115Phe) variant details
- p.Cys1115Phe
- rs2146582443
- ClinGen CA413243430
- ClinVar RCV001379576
- Ensembl rs2146582443
- Likely pathogenic
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.64
- MetaSVM 0.46
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)