L229F (p.Leu229Phe) variant of RAD21 (O60216)
L229F (p.Leu229Phe) in RAD21 (O60216) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cornelia de Lange syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and published literature.
L229F (p.Leu229Phe) variant details
- p.Leu229Phe
- rs774987531
- ClinGen CA4853034
- ClinVar RCV001922759
- ExAC rs774987531
- Uncertain significance
- Cornelia de Lange syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.21
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)