C37R (p.Cys37Arg) variant of NOTCH1 (P46531)
C37R (p.Cys37Arg) 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.
C37R (p.Cys37Arg) variant details
- p.Cys37Arg
- gnomAD rs1172832489
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available