G161D (p.Gly161Asp) variant of RAD21 (O60216)
G161D (p.Gly161Asp) 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 0.38 / 1. The record also includes population frequency data and published literature.
G161D (p.Gly161Asp) variant details
- p.Gly161Asp
- rs2537297912
- ClinGen CA372007059
- ClinVar RCV002820293
- Uncertain significance
- Cornelia de Lange syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.11
- CADD 24.30
- PolyPhen-2 0.28
- SIFT 0.13
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)