A25T (p.Ala25Thr) variant of NOTCH2 (Q04721)
A25T (p.Ala25Thr) 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.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- ExAC rs782589993
- gnomAD rs782589993
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.24
- CADD 27.00
- PolyPhen-2 0.48
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available