E21G (p.Glu21Gly) variant of ETV6 (Transcription factor ETV6)
E21G (p.Glu21Gly) 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 0.29 / 1. The record also includes population frequency data and structural context.
E21G (p.Glu21Gly) variant details
- p.Glu21Gly
- rs139212214
- ClinGen CA6454101
- ClinVar RCV003441563
- ESP rs139212214
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.06
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available