R43G (p.Arg43Gly) variant of TET2 (Methylcytosine dioxygenase TET2)
R43G (p.Arg43Gly) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R43G (p.Arg43Gly) variant details
- p.Arg43Gly
- ExAC rs758392177
- gnomAD rs758392177
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.12
- MetaLR 0.07
- MetaSVM -1.02
- CADD 15.20
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available