H6D (p.His6Asp) variant of SUZ12 (Polycomb protein SUZ12)
H6D (p.His6Asp) in SUZ12 (Polycomb protein SUZ12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
H6D (p.His6Asp) variant details
- p.His6Asp
- rs1905986323
- ClinGen CA399030262
- ClinVar RCV002511423
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.23
- MetaLR 0.28
- MetaSVM -0.31
- PolyPhen-2 0.82
- SIFT 0.02
- MutPred 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available