A40D (p.Ala40Asp) variant of NOTCH3 (Q9UM47)
A40D (p.Ala40Asp) 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 0.36 / 1. The record also includes population frequency data and structural context.
A40D (p.Ala40Asp) variant details
- p.Ala40Asp
- ExAC rs766139231
- gnomAD rs766139231
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.41
- CADD 16.90
- PolyPhen-2 0.20
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available