K536R (p.Lys536Arg) variant of SMC1A (Q14683)
K536R (p.Lys536Arg) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
K536R (p.Lys536Arg) variant details
- p.Lys536Arg
- rs2146600076
- ClinGen CA413253834
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10044
- Pathogenic
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.72
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)