P39S (p.Pro39Ser) variant of TET2 (Methylcytosine dioxygenase TET2)
P39S (p.Pro39Ser) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- ExAC rs757077124
- gnomAD rs757077124
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.32
- MetaLR 0.26
- MetaSVM -0.51
- CADD 24.00
- PolyPhen-2 0.92
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available