L660P (p.Leu660Pro) variant of SUZ12 (Polycomb protein SUZ12)
L660P (p.Leu660Pro) in SUZ12 (Polycomb protein SUZ12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Imagawa-Matsumoto syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
L660P (p.Leu660Pro) variant details
- p.Leu660Pro
- rs2142222377
- ClinGen CA399036413
- ClinVar RCV002249186
- Ensembl rs2142222377
- Likely pathogenic
- Imagawa-Matsumoto syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- AlphaMissense 1.00
- MetaLR 0.37
- MetaSVM -0.38
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Imagawa-Matsumoto syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available