D59E (p.Asp59Glu) variant of NOTCH1 (P46531)
D59E (p.Asp59Glu) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
D59E (p.Asp59Glu) variant details
- p.Asp59Glu
- Ensembl rs2133379737
- Missense
- Variant Prioritization Score for Impact Estimate 0.0912
- CADD 4.43
- PolyPhen-2 0.03
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available