G6R (p.Gly6Arg) variant of ARID2 (Q68CP9)
G6R (p.Gly6Arg) in ARID2 (Q68CP9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- rs2137958679
- Ensembl rs2137958679
- ClinGen CA384608920
- ClinVar RCV004547141
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.20
- MetaLR 0.13
- MetaSVM -0.93
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available