A14V (p.Ala14Val) variant of NOTCH2 (Q04721)
A14V (p.Ala14Val) in NOTCH2 (Q04721) 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 and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- 1000Genomes rs587662181
- ExAC rs587662181
- TOPMed rs587662181
- gnomAD rs587662181
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.13
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available