L603P (p.Leu603Pro) variant of RAD21 (O60216)
L603P (p.Leu603Pro) in RAD21 (O60216) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cornelia de Lange syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L603P (p.Leu603Pro) variant details
- p.Leu603Pro
- rs863224910
- ClinGen CA278989
- ClinVar RCV000198309
- Ensembl rs863224910
- Likely pathogenic
- Cornelia de Lange syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.98
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Cornelia de Lange syndrome 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)