S56C (p.Ser56Cys) variant of TET2 (Methylcytosine dioxygenase TET2)
S56C (p.Ser56Cys) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S56C (p.Ser56Cys) variant details
- p.Ser56Cys
- ExAC rs770283635
- gnomAD rs770283635
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -1.03
- CADD 11.40
- PolyPhen-2 0.22
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available