Q26R (p.Gln26Arg) variant of NOTCH1 (P46531)
Q26R (p.Gln26Arg) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q26R (p.Gln26Arg) variant details
- p.Gln26Arg
- gnomAD rs1843774844
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available