C25F (p.Cys25Phe) variant of TET2 (Methylcytosine dioxygenase TET2)
C25F (p.Cys25Phe) 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 provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
C25F (p.Cys25Phe) variant details
- p.Cys25Phe
- rs762289112
- ClinGen CA3031438
- NCI-TCGA Cosmic COSV5443
- cosmic curated COSV54438
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.12
- MetaLR 0.12
- MetaSVM -0.81
- CADD 24.60
- PolyPhen-2 0.46
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available