G41R (p.Gly41Arg) variant of ARID2 (Q68CP9)
G41R (p.Gly41Arg) in ARID2 (Q68CP9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Coffin-Siris syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G41R (p.Gly41Arg) variant details
- p.Gly41Arg
- rs1940948860
- ClinGen CA384609156
- ClinVar RCV003141534
- TOPMed rs1940948860
- Uncertain significance
- Coffin-Siris syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.48
- MetaLR 0.46
- MetaSVM -0.06
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Coffin-Siris syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Coffin-Siris Syndrome. (PMID 23556151)