R131H (p.Arg131His) variant of SMC1A (Q14683)
R131H (p.Arg131His) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R131H (p.Arg131His) variant details
- p.Arg131His
- rs781903928
- ClinGen CA10420676
- cosmic curated COSV10881
- ClinVar RCV001059173
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.26
- MetaSVM -0.49
- CADD 26.60
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)