R13K (p.Arg13Lys) variant of TET2 (Methylcytosine dioxygenase TET2)
R13K (p.Arg13Lys) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R13K (p.Arg13Lys) variant details
- p.Arg13Lys
- cosmic curated COSV10502
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.10
- MetaLR 0.10
- MetaSVM -1.01
- CADD 22.50
- PolyPhen-2 0.20
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available