D38G (p.Asp38Gly) variant of ETV1 (ETS translocation variant 1)
D38G (p.Asp38Gly) in ETV1 (ETS translocation variant 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D38G (p.Asp38Gly) variant details
- p.Asp38Gly
- rs761586548
- ClinGen CA4167221
- ClinVar RCV004383128
- ExAC rs761586548
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.17
- CADD 23.40
- PolyPhen-2 0.25
- SIFT 0.34
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available