L19V (p.Leu19Val) variant of MYCN (N-myc proto-oncogene protein)
L19V (p.Leu19Val) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- ExAC rs763755133
- TOPMed rs763755133
- gnomAD rs763755133
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.17
- MetaLR 0.15
- MetaSVM -0.78
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available