H53Y (p.His53Tyr) variant of ETV6 (Transcription factor ETV6)
H53Y (p.His53Tyr) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
H53Y (p.His53Tyr) variant details
- p.His53Tyr
- NCI-TCGA Cosmic COSV6714
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.23
- CADD 23.60
- PolyPhen-2 0.94
- SIFT 0.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available