K258R (p.Lys258Arg) variant of SMC1A (Q14683)
K258R (p.Lys258Arg) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K258R (p.Lys258Arg) variant details
- p.Lys258Arg
- rs897112776
- ClinGen CA329907610
- ClinVar RCV003624864
- TOPMed rs897112776
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.26
- ESM-1b 0.70
- AlphaMissense 0.08
- MetaLR 0.31
- MetaSVM -0.52
- CADD 19.50
- 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 1.9e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)