L33H (p.Leu33His) variant of ETV6 (Transcription factor ETV6)
L33H (p.Leu33His) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
L33H (p.Leu33His) variant details
- p.Leu33His
- rs1555123823
- ClinGen CA384041699
- ClinVar RCV000520098
- Ensembl rs1555123823
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.14
- MetaLR 0.12
- MetaSVM -1.01
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available