T6K (p.Thr6Lys) variant of MYCN (N-myc proto-oncogene protein)
T6K (p.Thr6Lys) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T6K (p.Thr6Lys) variant details
- p.Thr6Lys
- gnomAD 2-15942081-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.24
- MetaLR 0.33
- MetaSVM -0.73
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available