Q214E (p.Gln214Glu) variant of RAD21 (O60216)
Q214E (p.Gln214Glu) 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 0.41 / 1. The record also includes population frequency data and published literature.
Q214E (p.Gln214Glu) variant details
- p.Gln214Glu
- rs767342502
- ClinGen CA4853040
- ClinVar RCV002007711
- ExAC rs767342502
- Uncertain significance
- Cornelia de Lange syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.15
- CADD 23.40
- PolyPhen-2 0.58
- SIFT 0.23
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)