R72H (p.Arg72His) variant of NOTCH2 (Q04721)
R72H (p.Arg72His) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R72H (p.Arg72His) variant details
- p.Arg72His
- rs201838650
- ClinGen CA1040904
- cosmic curated COSV99864
- ClinVar RCV000435654
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.09
- CADD 22.50
- PolyPhen-2 0.25
- SIFT 0.22
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ITU population (allele frequency 0.049)
- Structural context available