M9V (p.Met9Val) variant of MYCN (N-myc proto-oncogene protein)
M9V (p.Met9Val) in MYCN (N-myc proto-oncogene protein) is a missense change. 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.
M9V (p.Met9Val) variant details
- p.Met9Val
- gnomAD rs1260613770
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.35
- MetaLR 0.20
- MetaSVM -1.02
- CADD 26.10
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available