P37L (p.Pro37Leu) variant of RARA (Retinoic acid receptor alpha)
P37L (p.Pro37Leu) in RARA (Retinoic acid receptor alpha) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- 1000Genomes rs561629991
- ExAC rs561629991
- TOPMed rs561629991
- gnomAD rs561629991
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.56
- CADD 23.10
- PolyPhen-2 0.98
- SIFT 0.36
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available