H55L (p.His55Leu) variant of TET2 (Methylcytosine dioxygenase TET2)
H55L (p.His55Leu) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
H55L (p.His55Leu) variant details
- p.His55Leu
- ExAC rs781497651
- TOPMed rs781497651
- gnomAD rs781497651
- Missense
- Variant Prioritization Score for Impact Estimate 0.0986
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -0.98
- CADD 1.12
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available