R90W (p.Arg90Trp) variant of RAD21 (O60216)
R90W (p.Arg90Trp) in RAD21 (O60216) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cornelia de Lange syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and published literature.
R90W (p.Arg90Trp) variant details
- p.Arg90Trp
- rs1057522888
- ClinGen CA16605433
- NCI-TCGA Cosmic COSV5205
- ClinVar RCV000418359
- Uncertain significance
- not provided; Cornelia de Lange syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.61
- CADD 26.70
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cornelia de Lange syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)