N145K (p.Asn145Lys) variant of SMC3 (Q9UQE7)
N145K (p.Asn145Lys) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cornelia de Lange syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
N145K (p.Asn145Lys) variant details
- p.Asn145Lys
- rs2493111001
- ClinGen CA378375071
- ClinVar RCV003485953
- Likely pathogenic
- Cornelia de Lange syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Likely pathogenic (Cornelia de Lange syndrome 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)