A2V (p.Ala2Val) variant of SUZ12 (Polycomb protein SUZ12)
A2V (p.Ala2Val) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs1394417218
- gnomAD rs1394417218
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.04
- MetaLR 0.08
- MetaSVM -0.98
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.1e-05)
- Structural context available