C40F (p.Cys40Phe) variant of RAI1 (Retinoic acid-induced protein 1)
C40F (p.Cys40Phe) 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 RAI1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
C40F (p.Cys40Phe) variant details
- p.Cys40Phe
- 1000Genomes rs577650444
- ExAC rs577650444
- TOPMed rs577650444
- gnomAD rs577650444
- Uncertain significance
- RAI1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.69
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (RAI1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available