L15F (p.Leu15Phe) variant of NOTCH2 (Q04721)
L15F (p.Leu15Phe) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L15F (p.Leu15Phe) variant details
- p.Leu15Phe
- Ensembl rs1570805519
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.38
- CADD 22.20
- PolyPhen-2 0.86
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 5.5e-06)
- Structural context available