A38T (p.Ala38Thr) variant of NOTCH3 (Q9UM47)
A38T (p.Ala38Thr) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- ExAC rs752064930
- TOPMed rs752064930
- gnomAD rs752064930
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.33
- CADD 22.70
- PolyPhen-2 0.53
- SIFT 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.9e-05)
- Structural context available