F47C (p.Phe47Cys) variant of SMC1A (Q14683)
F47C (p.Phe47Cys) 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 0.74 / 1. The record also includes published literature and structural context.
F47C (p.Phe47Cys) variant details
- p.Phe47Cys
- rs1569359530
- ClinGen CA413133027
- ClinVar RCV000679805
- Ensembl rs1569359530
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.45
- MetaSVM 0.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)