R151K (p.Arg151Lys) variant of SMC1A (Q14683)
R151K (p.Arg151Lys) 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 0.87 / 1. The record also includes published literature and structural context.
R151K (p.Arg151Lys) variant details
- p.Arg151Lys
- rs2075720794
- ClinGen CA413259505
- ClinVar RCV001213339
- Ensembl rs2075720794
- Likely benign
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.86
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely benign (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)