R5L (p.Arg5Leu) variant of NOTCH2 (Q04721)
R5L (p.Arg5Leu) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- TOPMed rs1234964366
- gnomAD rs1234964366
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.25
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Middle Eastern population (allele frequency 0.00069)
- Structural context available