T6A (p.Thr6Ala) variant of MYCN (N-myc proto-oncogene protein)
T6A (p.Thr6Ala) in MYCN (N-myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- gnomAD 2-15942080-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.22
- MetaLR 0.23
- MetaSVM -0.84
- CADD 7.89
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available