H34R (p.His34Arg) variant of ETV6 (Transcription factor ETV6)
H34R (p.His34Arg) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
H34R (p.His34Arg) variant details
- p.His34Arg
- rs1437620013
- ClinGen CA384041707
- ClinVar RCV003691057
- TOPMed rs1437620013
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- AlphaMissense 0.12
- MetaLR 0.05
- MetaSVM -1.08
- PolyPhen-2 0.06
- SIFT 0.36
- EVE 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available