P46T (p.Pro46Thr) variant of TET2 (Methylcytosine dioxygenase TET2)
P46T (p.Pro46Thr) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P46T (p.Pro46Thr) variant details
- p.Pro46Thr
- Ensembl rs2110219721
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.04
- CADD 4.47
- PolyPhen-2 0.02
- SIFT 0.65
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available