K53K (p.Lys53Lys) variant of TET2 (Methylcytosine dioxygenase TET2)
K53K (p.Lys53Lys) in TET2 (Methylcytosine dioxygenase TET2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K53K (p.Lys53Lys) variant details
- p.Lys53Lys
- rs1728676612
- gnomAD 4-105234101-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 5.71
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available