R171Q (p.Arg171Gln) variant of SMC1A (Q14683)
R171Q (p.Arg171Gln) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R171Q (p.Arg171Gln) variant details
- p.Arg171Gln
- rs2075720519
- ClinGen CA413259364
- cosmic curated COSV10522
- ClinVar RCV001201950
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.29
- ESM-1b 0.97
- AlphaMissense 0.13
- MetaLR 0.57
- MetaSVM -0.15
- CADD 19.60
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)