R55C (p.Arg55Cys) variant of ETV6 (Transcription factor ETV6)
R55C (p.Arg55Cys) 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; 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.
R55C (p.Arg55Cys) variant details
- p.Arg55Cys
- rs750795092
- NCI-TCGA Cosmic COSV6714
- ExAC rs750795092
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.25
- CADD 25.10
- PolyPhen-2 0.11
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available