R54H (p.Arg54His) variant of NOTCH3 (Q9UM47)
R54H (p.Arg54His) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R54H (p.Arg54His) variant details
- p.Arg54His
- rs754104109
- ClinGen CA9263981
- ClinVar RCV001663831
- ExAC rs754104109
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.49
- CADD 23.90
- PolyPhen-2 0.92
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in CADASIL1)
- UniProt: Uncertain significance (in CADASIL1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available