D31N (p.Asp31Asn) variant of MYCN (N-myc proto-oncogene protein)
D31N (p.Asp31Asn) in MYCN (N-myc proto-oncogene protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Feingold syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- NCI-TCGA Cosmic COSV5525
- Ensembl rs2103323544
- Conflicting interpretations
- Inborn genetic diseases; Feingold syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.26
- MetaLR 0.15
- MetaSVM -0.74
- CADD 29.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Feingold syndrome type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available