S7Y (p.Ser7Tyr) variant of MYCN (N-myc proto-oncogene protein)
S7Y (p.Ser7Tyr) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S7Y (p.Ser7Tyr) variant details
- p.Ser7Tyr
- gnomAD 2-15942084-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.37
- MetaLR 0.52
- MetaSVM -0.26
- CADD 23.30
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available