R30T (p.Arg30Thr) variant of ARID2 (Q68CP9)
R30T (p.Arg30Thr) 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 0.54 / 1. The record also includes population frequency data and structural context.
R30T (p.Arg30Thr) variant details
- p.Arg30Thr
- rs995867385
- ClinGen CA236966923
- ClinVar RCV003887665
- TOPMed rs995867385
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.45
- MetaLR 0.38
- MetaSVM -0.33
- CADD 32.00
- PolyPhen-2 0.99
- 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 1.5e-05)
- Structural context available