T8I (p.Thr8Ile) variant of MYCN (N-myc proto-oncogene protein)
T8I (p.Thr8Ile) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- ESP rs371517719
- ExAC rs371517719
- TOPMed rs371517719
- gnomAD rs371517719
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.30
- MetaLR 0.42
- MetaSVM -0.56
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available