A29V (p.Ala29Val) variant of SUZ12 (Polycomb protein SUZ12)
A29V (p.Ala29Val) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- gnomAD 17-31937332-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.22
- MetaLR 0.25
- MetaSVM -0.56
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.33
- Most common in the South Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available