A81T (p.Ala81Thr) variant of NOTCH2 (Q04721)
A81T (p.Ala81Thr) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A81T (p.Ala81Thr) variant details
- p.Ala81Thr
- TOPMed rs1308427063
- gnomAD rs1308427063
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.14
- CADD 18.80
- PolyPhen-2 0.98
- SIFT 0.59
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available