V24M (p.Val24Met) variant of NOTCH3 (Q9UM47)
V24M (p.Val24Met) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V24M (p.Val24Met) variant details
- p.Val24Met
- TOPMed rs2047007209
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.21
- CADD 12.70
- PolyPhen-2 0.05
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 2.3e-06)
- Structural context available