Q58H (p.Gln58His) variant of NOTCH1 (P46531)
Q58H (p.Gln58His) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q58H (p.Gln58His) variant details
- p.Gln58His
- TOPMed rs1353567476
- gnomAD rs1353567476
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available