R415H (p.Arg415His) variant of ETV4 (ETS translocation variant 4)
R415H (p.Arg415His) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital anomaly of kidney and urinary tract. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R415H (p.Arg415His) variant details
- p.Arg415His
- rs373515634
- ClinGen CA8592086
- ClinVar RCV001849612
- 1000Genomes rs373515634
- Likely pathogenic
- Congenital anomaly of kidney and urinary tract
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.61
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital anomaly of kidney and urinary tract)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available