D31G (p.Asp31Gly) variant of MYCN (N-myc proto-oncogene protein)
D31G (p.Asp31Gly) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D31G (p.Asp31Gly) variant details
- p.Asp31Gly
- gnomAD rs1275764497
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.36
- MetaLR 0.14
- MetaSVM -0.85
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available