G38S (p.Gly38Ser) variant of SUZ12 (Polycomb protein SUZ12)
G38S (p.Gly38Ser) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G38S (p.Gly38Ser) variant details
- p.Gly38Ser
- gnomAD rs1218214351
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.34
- MetaLR 0.87
- MetaSVM 0.53
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the East Asian population (allele frequency 0.00054)
- Structural context available