D166G (p.Asp166Gly) variant of RAD21 (O60216)
D166G (p.Asp166Gly) 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 0.50 / 1. The record also includes population frequency data and published literature.
D166G (p.Asp166Gly) variant details
- p.Asp166Gly
- rs1586268625
- ClinGen CA372006993
- ClinVar RCV000995850
- Ensembl rs1586268625
- Likely pathogenic
- Cornelia de Lange syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.37
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Cornelia de Lange syndrome 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)