P39L (p.Pro39Leu) variant of TET2 (Methylcytosine dioxygenase TET2)
P39L (p.Pro39Leu) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- rs1439284477
- ClinGen CA357790469
- ClinVar RCV002824786
- ClinVar RCV005281233
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.21
- MetaLR 0.17
- MetaSVM -0.79
- CADD 22.50
- PolyPhen-2 0.29
- SIFT 0.12
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available