R61Q (p.Arg61Gln) variant of NOTCH3 (Q9UM47)
R61Q (p.Arg61Gln) 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 0.26 / 1. The record also includes population frequency data and structural context.
R61Q (p.Arg61Gln) variant details
- p.Arg61Gln
- rs1222763947
- ClinGen CA404483339
- ClinVar RCV002593159
- TOPMed rs1222763947
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.20
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available