A4E (p.Ala4Glu) variant of ERBB4 (Q15303)
A4E (p.Ala4Glu) 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 0.44 / 1. The record also includes population frequency data and structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- rs748663394
- ClinGen CA2088631
- cosmic curated COSV53600
- ClinVar RCV001981082
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.35
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available