V42I (p.Val42Ile) variant of NOTCH2 (Q04721)
V42I (p.Val42Ile) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V42I (p.Val42Ile) variant details
- p.Val42Ile
- ExAC rs782736063
- gnomAD rs782736063
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.16
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available