L40N (p.Leu40Asn) variant of TET2 (Methylcytosine dioxygenase TET2)
L40N (p.Leu40Asn) in TET2 (Methylcytosine dioxygenase TET2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L40N (p.Leu40Asn) variant details
- p.Leu40Asn
- rs1560540209
- gnomAD 4-105234058-C-CAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 25.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available