L40M (p.Leu40Met) variant of TET2 (Methylcytosine dioxygenase TET2)
L40M (p.Leu40Met) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L40M (p.Leu40Met) variant details
- p.Leu40Met
- gnomAD 4-105234060-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.19
- MetaLR 0.12
- MetaSVM -0.94
- CADD 11.90
- PolyPhen-2 0.47
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available