D80E (p.Asp80Glu) variant of NOTCH3 (Q9UM47)
D80E (p.Asp80Glu) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D80E (p.Asp80Glu) variant details
- p.Asp80Glu
- gnomAD rs1256046042
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.58
- CADD 22.10
- PolyPhen-2 0.07
- SIFT 0.03
- Most common in the South Asian population (allele frequency 9.4e-05)
- Structural context available