H24L (p.His24Leu) variant of NOTCH2 (Q04721)
H24L (p.His24Leu) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
H24L (p.His24Leu) variant details
- p.His24Leu
- gnomAD rs1553217905
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.08
- CADD 7.52
- PolyPhen-2 0.00
- SIFT 0.80
- Population evidence available
- Structural context available