N397I (p.Asn397Ile) variant of SMC1A (Q14683)
N397I (p.Asn397Ile) in SMC1A (Q14683) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
N397I (p.Asn397Ile) variant details
- p.Asn397Ile
- ExAC rs782697006
- TOPMed rs782697006
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.28
- MetaLR 0.62
- MetaSVM 0.25
- CADD 23.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available