R275Q (p.Arg275Gln) variant of SMC1A (Q14683)
R275Q (p.Arg275Gln) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R275Q (p.Arg275Gln) variant details
- p.Arg275Gln
- rs2520960966
- ClinGen CA413258298
- ClinVar RCV003624531
- ClinVar RCV004765918
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.67
- MetaSVM 0.58
- CADD 25.90
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)