G226S (p.Gly226Ser) variant of RAD21 (O60216)
G226S (p.Gly226Ser) 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 0.42 / 1. The record also includes population frequency data and published literature.
G226S (p.Gly226Ser) variant details
- p.Gly226Ser
- rs2537297697
- ClinGen CA372005876
- ClinVar RCV002619911
- ClinVar RCV003134665
- Uncertain significance
- Cornelia de Lange syndrome 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.17
- CADD 23.70
- PolyPhen-2 0.43
- SIFT 0.14
- 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 9e-07)
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)