G38D (p.Gly38Asp) variant of SUZ12 (Polycomb protein SUZ12)
G38D (p.Gly38Asp) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G38D (p.Gly38Asp) variant details
- p.Gly38Asp
- gnomAD rs1252166484
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.50
- MetaLR 0.86
- MetaSVM 0.91
- CADD 23.90
- PolyPhen-2 0.13
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available