A21D (p.Ala21Asp) variant of NOTCH2 (Q04721)
A21D (p.Ala21Asp) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A21D (p.Ala21Asp) variant details
- p.Ala21Asp
- ExAC rs782179651
- TOPMed rs782179651
- gnomAD rs782179651
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.15
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available