V58A (p.Val58Ala) variant of ERBB4 (Q15303)
V58A (p.Val58Ala) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
V58A (p.Val58Ala) variant details
- p.Val58Ala
- 1000Genomes rs545249326
- ExAC rs545249326
- TOPMed rs545249326
- gnomAD rs545249326
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.90
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available