C31Y (p.Cys31Tyr) variant of NOTCH1 (P46531)
C31Y (p.Cys31Tyr) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
C31Y (p.Cys31Tyr) variant details
- p.Cys31Tyr
- gnomAD rs1293196350
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available