N190S (p.Asn190Ser) variant of SMC3 (Q9UQE7)
N190S (p.Asn190Ser) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
N190S (p.Asn190Ser) variant details
- p.Asn190Ser
- gnomAD rs1861037687
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.69
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available