R5G (p.Arg5Gly) variant of TET2 (Methylcytosine dioxygenase TET2)
R5G (p.Arg5Gly) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- ExAC rs749172180
- gnomAD rs749172180
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.12
- MetaLR 0.12
- MetaSVM -0.94
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available