K267R (p.Lys267Arg) variant of SMC1A (Q14683)
K267R (p.Lys267Arg) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K267R (p.Lys267Arg) variant details
- p.Lys267Arg
- rs2520961160
- ClinGen CA413258396
- ClinVar RCV003624818
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.18
- MetaSVM -0.89
- CADD 22.50
- 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 1.2e-06)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)