R23L (p.Arg23Leu) variant of NOTCH1 (P46531)
R23L (p.Arg23Leu) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Anophthalmia-microphthalmia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R23L (p.Arg23Leu) variant details
- p.Arg23Leu
- rs869025260
- ClinGen CA351614
- ClinVar RCV000207428
- gnomAD rs869025260
- Likely benign
- Anophthalmia-microphthalmia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 22.90
- PolyPhen-2 0.27
- SIFT 0.04
- ClinVar: Likely benign (Anophthalmia-microphthalmia syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available