V37M (p.Val37Met) variant of ETV6 (Transcription factor ETV6)
V37M (p.Val37Met) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V37M (p.Val37Met) variant details
- p.Val37Met
- ExAC rs752186257
- TOPMed rs752186257
- gnomAD rs752186257
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.12
- CADD 23.20
- PolyPhen-2 0.28
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- UniProt: Conflicting interpretations
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available