F25L (p.Phe25Leu) variant of SUZ12 (Polycomb protein SUZ12)
F25L (p.Phe25Leu) in SUZ12 (Polycomb protein SUZ12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
F25L (p.Phe25Leu) variant details
- p.Phe25Leu
- gnomAD rs1161554779
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.19
- MetaLR 0.30
- MetaSVM -0.58
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.92
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available