K316R (p.Lys316Arg) variant of SMC1A (Q14683)
K316R (p.Lys316Arg) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K316R (p.Lys316Arg) variant details
- p.Lys316Arg
- rs1377540307
- ClinGen CA413257755
- ClinVar RCV002604572
- TOPMed rs1377540307
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.08
- MetaLR 0.24
- MetaSVM -0.80
- CADD 20.90
- 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)