R188C (p.Arg188Cys) variant of SMC1A (Q14683)
R188C (p.Arg188Cys) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
R188C (p.Arg188Cys) variant details
- p.Arg188Cys
- rs2146605558
- ClinGen CA413259240
- NCI-TCGA Cosmic COSV5913
- cosmic curated COSV59131
- Uncertain significance
- Inborn genetic diseases; Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.70
- MetaSVM 0.56
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Congenital muscular hypertrophy-cerebra)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)