V47I (p.Val47Ile) variant of NOTCH1 (P46531)
V47I (p.Val47Ile) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
V47I (p.Val47Ile) variant details
- p.Val47Ile
- gnomAD rs1331779957
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available