Q166R (p.Gln166Arg) variant of SMC1A (Q14683)
Q166R (p.Gln166Arg) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign 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 published literature and structural context.
Q166R (p.Gln166Arg) variant details
- p.Gln166Arg
- rs2146605622
- ClinGen CA413259404
- ClinVar RCV002093946
- Ensembl rs2146605622
- Benign
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.10
- MetaSVM -1.03
- PolyPhen-2 0.51
- SIFT 0.23
- ClinVar: Benign (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)