A123T (p.Ala123Thr) variant of ETV1 (ETS translocation variant 1)
A123T (p.Ala123Thr) in ETV1 (ETS translocation variant 1) is a missense change. Clinical records from ClinVar 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 0.45 / 1. The record also includes population frequency data and structural context.
A123T (p.Ala123Thr) variant details
- p.Ala123Thr
- ExAC rs779138336
- TOPMed rs779138336
- gnomAD rs779138336
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.14
- CADD 35.00
- PolyPhen-2 0.73
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available