L34F (p.Leu34Phe) variant of TET2 (Methylcytosine dioxygenase TET2)
L34F (p.Leu34Phe) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L34F (p.Leu34Phe) variant details
- p.Leu34Phe
- rs111948941
- ClinGen CA162305
- cosmic curated COSV54412
- ClinVar RCV000122123
- Benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -0.83
- CADD 20.90
- PolyPhen-2 0.07
- SIFT 0.03
- ClinVar: Benign (not specified; not provided)
- EBI: Benign (in dbSNP:rs111948941)
- UniProt: Benign (in dbSNP:rs111948941)
- Most common in the HGDP:MOZABITE population (allele frequency 0.12)
- Structural context available
- Cited in: Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. (PMID 19420352)
- Cited in: Acquired mutations in TET2 are common in myelodysplastic syndromes. (PMID 19483684)