G42R (p.Gly42Arg) variant of ARID2 (Q68CP9)
G42R (p.Gly42Arg) 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 0.46 / 1. The record also includes structural context.
G42R (p.Gly42Arg) variant details
- p.Gly42Arg
- rs2137959723
- Ensembl rs2137959723
- ClinGen CA384609162
- ClinVar RCV002284738
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- AlphaMissense 0.97
- MetaLR 0.40
- MetaSVM -0.22
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.47
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available