K1190Q (p.Lys1190Gln) variant of SMC1A (Q14683)
K1190Q (p.Lys1190Gln) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
K1190Q (p.Lys1190Gln) variant details
- p.Lys1190Gln
- rs1057524798
- ClinGen CA413242104
- ClinVar RCV002272820
- Ensembl rs1057524798
- Likely pathogenic
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.96
- CADD 26.60
- ClinVar: Likely pathogenic (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)