D45N (p.Asp45Asn) variant of NOTCH3 (Q9UM47)
D45N (p.Asp45Asn) 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 0.52 / 1. The record also includes population frequency data and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- ESP rs142031490
- ExAC rs142031490
- gnomAD rs142031490
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.36
- CADD 23.30
- PolyPhen-2 0.10
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available