A29P (p.Ala29Pro) variant of SUZ12 (Polycomb protein SUZ12)
A29P (p.Ala29Pro) in SUZ12 (Polycomb protein SUZ12) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A29P (p.Ala29Pro) variant details
- p.Ala29Pro
- TOPMed rs1225019828
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.20
- MetaLR 0.24
- MetaSVM -0.66
- CADD 22.80
- PolyPhen-2 0.27
- SIFT 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available