Q58E (p.Gln58Glu) variant of NOTCH1 (P46531)
Q58E (p.Gln58Glu) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Q58E (p.Gln58Glu) variant details
- p.Gln58Glu
- gnomAD rs1340326048
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.06
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available