Q26H (p.Gln26His) variant of NOTCH1 (P46531)
Q26H (p.Gln26His) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
Q26H (p.Gln26His) variant details
- p.Gln26His
- Ensembl rs2133406259
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 22.40
- PolyPhen-2 0.36
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available