L40Q (p.Leu40Gln) variant of TET2 (Methylcytosine dioxygenase TET2)
L40Q (p.Leu40Gln) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L40Q (p.Leu40Gln) variant details
- p.Leu40Gln
- gnomAD 4-105234061-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.20
- MetaLR 0.14
- MetaSVM -0.97
- CADD 22.10
- PolyPhen-2 0.47
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available