S3F (p.Ser3Phe) variant of RAI1 (Retinoic acid-induced protein 1)
S3F (p.Ser3Phe) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of RAI1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S3F (p.Ser3Phe) variant details
- p.Ser3Phe
- TOPMed rs200860391
- Uncertain significance
- RAI1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 25.90
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (RAI1-related disorder)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.2e-06)
- Structural context available