N246K (p.Asn246Lys) variant of SMC1A (Q14683)
N246K (p.Asn246Lys) 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 0.81 / 1. The record also includes published literature and structural context.
N246K (p.Asn246Lys) variant details
- p.Asn246Lys
- rs2520961607
- ClinGen CA413258608
- ClinVar RCV002572493
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- ESM-1b 1.00
- AlphaMissense 0.57
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)