T5M (p.Thr5Met) variant of ARID2 (Q68CP9)
T5M (p.Thr5Met) in ARID2 (Q68CP9) is a missense change. Clinical records from ClinVar 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 0.37 / 1. The record also includes population frequency data and structural context.
T5M (p.Thr5Met) variant details
- p.Thr5Met
- ESP rs374143008
- ExAC rs374143008
- TOPMed rs374143008
- gnomAD rs374143008
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.20
- MetaLR 0.12
- MetaSVM -0.94
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available