A39T (p.Ala39Thr) variant of NOTCH3 (Q9UM47)
A39T (p.Ala39Thr) in NOTCH3 (Q9UM47) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- Ensembl rs2145457351
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.38
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available