P46S (p.Pro46Ser) variant of TET2 (Methylcytosine dioxygenase TET2)
P46S (p.Pro46Ser) 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, published literature, and structural context.
P46S (p.Pro46Ser) variant details
- p.Pro46Ser
- gnomAD 4-105234078-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.04
- CADD 4.42
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available