R92C (p.Arg92Cys) variant of SMC1A (Q14683)
R92C (p.Arg92Cys) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R92C (p.Arg92Cys) variant details
- p.Arg92Cys
- rs1444762600
- ClinGen CA413132140
- cosmic curated COSV10605
- ClinVar RCV004546172
- Conflicting interpretations
- not provided; Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.18
- MetaSVM -0.88
- CADD 23.20
- ClinVar: Conflicting classifications of pathogenicity (not provided; Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)