Q119H (p.Gln119His) variant of RAD21 (O60216)
Q119H (p.Gln119His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
Q119H (p.Gln119His) variant details
- p.Gln119His
- rs763028310
- ClinGen CA4853114
- ClinVar RCV001757318
- ClinVar RCV006467900
- Uncertain significance
- Cornelia de Lange syndrome 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.23
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 4; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)