D33A (p.Asp33Ala) variant of MYCN (N-myc proto-oncogene protein)
D33A (p.Asp33Ala) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D33A (p.Asp33Ala) variant details
- p.Asp33Ala
- Ensembl rs1558533634
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.29
- MetaLR 0.12
- MetaSVM -0.95
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available