P29L (p.Pro29Leu) variant of TET2 (Methylcytosine dioxygenase TET2)
P29L (p.Pro29Leu) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- 1000Genomes rs12498609
- ESP rs12498609
- ExAC rs12498609
- TOPMed rs12498609
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.08
- MetaLR 0.11
- MetaSVM -0.92
- CADD 22.40
- PolyPhen-2 0.21
- SIFT 0.01
- EBI: Benign (in dbSNP:rs12498609)
- UniProt: Benign (in dbSNP:rs12498609)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available