A40G (p.Ala40Gly) variant of ETV1 (ETS translocation variant 1)
A40G (p.Ala40Gly) 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 0.53 / 1. The record also includes population frequency data and structural context.
A40G (p.Ala40Gly) variant details
- p.Ala40Gly
- rs1397294224
- ClinGen CA366870629
- ClinVar RCV004290262
- TOPMed rs1397294224
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.33
- CADD 32.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available