N7S (p.Asn7Ser) variant of TET2 (Methylcytosine dioxygenase TET2)
N7S (p.Asn7Ser) 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.
N7S (p.Asn7Ser) variant details
- p.Asn7Ser
- TOPMed rs1050537380
- gnomAD rs1050537380
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.13
- MetaLR 0.04
- MetaSVM -1.05
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available