P33L (p.Pro33Leu) variant of RAI1 (Retinoic acid-induced protein 1)
P33L (p.Pro33Leu) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; RAI1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- rs753461570
- ClinGen CA8418039
- ClinVar RCV001880724
- ClinVar RCV004690155
- Conflicting interpretations
- not provided; not specified; RAI1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 20.30
- PolyPhen-2 0.12
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; RAI1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available