A17V (p.Ala17Val) variant of ERBB4 (Q15303)
A17V (p.Ala17Val) in ERBB4 (Q15303) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. 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.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- rs201202926
- ClinGen CA2088621
- ClinVar RCV002088147
- ClinVar RCV004752151
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.24
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.50
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0032)
- Structural context available