E99A (p.Glu99Ala) variant of NOTCH2 (Q04721)
E99A (p.Glu99Ala) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E99A (p.Glu99Ala) variant details
- p.Glu99Ala
- gnomAD rs1553206136
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.11
- CADD 23.30
- PolyPhen-2 0.97
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available