R50H (p.Arg50His) variant of ERBB4 (Q15303)
R50H (p.Arg50His) in ERBB4 (Q15303) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R50H (p.Arg50His) variant details
- p.Arg50His
- rs755026855
- ClinGen CA2088513
- NCI-TCGA Cosmic COSV5350
- cosmic curated COSV53501
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.42
- CADD 24.40
- PolyPhen-2 0.60
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available