R50L (p.Arg50Leu) variant of ERBB4 (Q15303)
R50L (p.Arg50Leu) in ERBB4 (Q15303) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R50L (p.Arg50Leu) variant details
- p.Arg50Leu
- ExAC rs755026855
- TOPMed rs755026855
- gnomAD rs755026855
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.36
- CADD 22.80
- PolyPhen-2 0.22
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available