R47Q (p.Arg47Gln) variant of ERBB4 (Q15303)
R47Q (p.Arg47Gln) in ERBB4 (Q15303) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ERBB4-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R47Q (p.Arg47Gln) variant details
- p.Arg47Gln
- rs748447524
- ClinGen CA2088515
- cosmic curated COSV99633
- ClinVar RCV003414155
- Uncertain significance
- ERBB4-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.18
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (ERBB4-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available