P53L (p.Pro53Leu) variant of RAI1 (Retinoic acid-induced protein 1)
P53L (p.Pro53Leu) 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 0.24 / 1. The record also includes population frequency data and structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- rs200021318
- ClinGen CA8418059
- cosmic curated COSV99885
- ClinVar RCV002125096
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.20
- PolyPhen-2 0.09
- SIFT 0.06
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available