S14L (p.Ser14Leu) variant of SMC1A (Q14683)
S14L (p.Ser14Leu) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
S14L (p.Ser14Leu) variant details
- p.Ser14Leu
- rs2521010433
- ClinGen CA413135573
- ClinVar RCV003229431
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available