A29E (p.Ala29Glu) variant of SUZ12 (Polycomb protein SUZ12)
A29E (p.Ala29Glu) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A29E (p.Ala29Glu) variant details
- p.Ala29Glu
- gnomAD 17-31937332-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.29
- MetaLR 0.28
- MetaSVM -0.37
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.80
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available