D66A (p.Asp66Ala) variant of NOTCH2 (Q04721)
D66A (p.Asp66Ala) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
D66A (p.Asp66Ala) variant details
- p.Asp66Ala
- ExAC rs782066986
- gnomAD rs782066986
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.69
- CADD 26.60
- PolyPhen-2 0.93
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available