D31Y (p.Asp31Tyr) variant of MYCN (N-myc proto-oncogene protein)
D31Y (p.Asp31Tyr) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D31Y (p.Asp31Tyr) variant details
- p.Asp31Tyr
- gnomAD 2-15942155-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.35
- MetaLR 0.14
- MetaSVM -0.84
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available