T69S (p.Thr69Ser) variant of RAI1 (Retinoic acid-induced protein 1)
T69S (p.Thr69Ser) in RAI1 (Retinoic acid-induced protein 1) 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 0.27 / 1. The record also includes population frequency data and structural context.
T69S (p.Thr69Ser) variant details
- p.Thr69Ser
- rs776386424
- ClinGen CA8418072
- ClinVar RCV003118338
- ExAC rs776386424
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 5.70
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available