P16L (p.Pro16Leu) variant of SUZ12 (Polycomb protein SUZ12)
P16L (p.Pro16Leu) in SUZ12 (Polycomb protein SUZ12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- ExAC rs765010301
- TOPMed rs765010301
- gnomAD rs765010301
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.27
- MetaLR 0.35
- MetaSVM -0.61
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the South Asian population (allele frequency 5.1e-05)
- Structural context available