G11S (p.Gly11Ser) variant of TET2 (Methylcytosine dioxygenase TET2)
G11S (p.Gly11Ser) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- ExAC rs775632921
- gnomAD rs775632921
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.32
- MetaLR 0.31
- MetaSVM -0.46
- CADD 24.20
- PolyPhen-2 0.91
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available