T8P (p.Thr8Pro) variant of MYCN (N-myc proto-oncogene protein)
T8P (p.Thr8Pro) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T8P (p.Thr8Pro) variant details
- p.Thr8Pro
- gnomAD 2-15942086-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.35
- MetaLR 0.39
- MetaSVM -0.60
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available