R329H (p.Arg329His) variant of SMC1A (Q14683)
R329H (p.Arg329His) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R329H (p.Arg329His) variant details
- p.Arg329His
- rs782449052
- ClinGen CA10420614
- cosmic curated COSV59129
- ClinVar RCV002077487
- Likely benign
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.37
- MetaSVM -0.34
- CADD 17.80
- ClinVar: Likely benign (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)