R5T (p.Arg5Thr) variant of TET2 (Methylcytosine dioxygenase TET2)
R5T (p.Arg5Thr) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. Clinical records from ClinVar 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 0.36 / 1. The record also includes population frequency data and structural context.
R5T (p.Arg5Thr) variant details
- p.Arg5Thr
- 1000Genomes rs568091851
- ExAC rs568091851
- gnomAD rs568091851
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.14
- MetaLR 0.13
- MetaSVM -0.88
- CADD 23.10
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available