R50C (p.Arg50Cys) variant of ERBB4 (Q15303)
R50C (p.Arg50Cys) in ERBB4 (Q15303) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R50C (p.Arg50Cys) variant details
- p.Arg50Cys
- rs372631205
- cosmic curated COSV53515
- 1000Genomes rs372631205
- ESP rs372631205
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.57
- CADD 31.00
- PolyPhen-2 0.77
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available