P57L (p.Pro57Leu) variant of RAI1 (Retinoic acid-induced protein 1)
P57L (p.Pro57Leu) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P57L (p.Pro57Leu) variant details
- p.Pro57Leu
- rs1229553889
- ClinGen CA398544903
- ClinVar RCV002663624
- TOPMed rs1229553889
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available