S38R (p.Ser38Arg) variant of TET2 (Methylcytosine dioxygenase TET2)
S38R (p.Ser38Arg) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S38R (p.Ser38Arg) variant details
- p.Ser38Arg
- cosmic curated COSV10879
- ExAC rs753552413
- gnomAD rs753552413
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.02
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available