T6M (p.Thr6Met) variant of MYCN (N-myc proto-oncogene protein)
T6M (p.Thr6Met) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T6M (p.Thr6Met) variant details
- p.Thr6Met
- gnomAD rs1311546727
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.32
- MetaLR 0.20
- MetaSVM -0.74
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.19
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available