L319A (p.Leu319Ala) variant of SMC1A (Q14683)
L319A (p.Leu319Ala) in SMC1A (Q14683) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
L319A (p.Leu319Ala) variant details
- p.Leu319Ala
- rs2520957861
- ClinGen CA2739273514
- ClinVar RCV003625286
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- ESM-1b 0.85
- AlphaMissense 0.68
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)