A3T (p.Ala3Thr) variant of NOTCH2 (Q04721)
A3T (p.Ala3Thr) in NOTCH2 (Q04721) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- ExAC rs782113557
- gnomAD rs782113557
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.34
- CADD 22.90
- PolyPhen-2 0.82
- SIFT 0.47
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 8.2e-05)
- Structural context available