A73S (p.Ala73Ser) variant of ETV6 (Transcription factor ETV6)
A73S (p.Ala73Ser) 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 0.52 / 1. The record also includes population frequency data and structural context.
A73S (p.Ala73Ser) variant details
- p.Ala73Ser
- gnomAD rs1172244238
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.32
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available