K188E (p.Lys188Glu) variant of SMC3 (Q9UQE7)
K188E (p.Lys188Glu) in SMC3 (Q9UQE7) 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 0.73 / 1. The record also includes structural context.
K188E (p.Lys188Glu) variant details
- p.Lys188Glu
- rs1057521663
- ClinGen CA16605599
- ClinVar RCV000443224
- Ensembl rs1057521663
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.65
- MetaSVM 0.46
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available