L17V (p.Leu17Val) variant of NOTCH2 (Q04721)
L17V (p.Leu17Val) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- gnomAD rs1553217920
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.16
- CADD 18.00
- PolyPhen-2 0.64
- SIFT 0.35
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available