P46L (p.Pro46Leu) variant of TET2 (Methylcytosine dioxygenase TET2)
P46L (p.Pro46Leu) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
P46L (p.Pro46Leu) variant details
- p.Pro46Leu
- rs376009634
- NCI-TCGA Cosmic COSV5440
- cosmic curated COSV54407
- ESP rs376009634
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.05
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.92
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available