M12T (p.Met12Thr) variant of MYCN (N-myc proto-oncogene protein)
M12T (p.Met12Thr) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
M12T (p.Met12Thr) variant details
- p.Met12Thr
- ExAC rs776147637
- gnomAD rs776147637
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.20
- MetaLR 0.09
- MetaSVM -0.85
- CADD 25.10
- PolyPhen-2 0.75
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available