N12S (p.Asn12Ser) variant of TET2 (Methylcytosine dioxygenase TET2)
N12S (p.Asn12Ser) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N12S (p.Asn12Ser) variant details
- p.Asn12Ser
- TOPMed rs1728668700
- gnomAD rs1728668700
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.12
- MetaLR 0.05
- MetaSVM -1.04
- CADD 15.10
- PolyPhen-2 0.02
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available