Q74R (p.Gln74Arg) variant of NOTCH2 (Q04721)
Q74R (p.Gln74Arg) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q74R (p.Gln74Arg) variant details
- p.Gln74Arg
- ExAC rs782359787
- TOPMed rs782359787
- gnomAD rs782359787
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.18
- CADD 22.70
- PolyPhen-2 0.77
- SIFT 0.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available