R91L (p.Arg91Leu) variant of NOTCH2 (Q04721)
R91L (p.Arg91Leu) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Hajdu-Cheney syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R91L (p.Arg91Leu) variant details
- p.Arg91Leu
- rs143195893
- ClinGen CA1040896
- cosmic curated COSV56693
- ClinVar RCV000986402
- Benign/Likely benign
- Hajdu-Cheney syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.14
- CADD 22.10
- PolyPhen-2 0.94
- SIFT 0.32
- ClinVar: Benign/Likely benign (Hajdu-Cheney syndrome; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Amish population (allele frequency 0.045)
- Structural context available