S112T (p.Ser112Thr) variant of ETV1 (ETS translocation variant 1)
S112T (p.Ser112Thr) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S112T (p.Ser112Thr) variant details
- p.Ser112Thr
- TOPMed rs1446300469
- gnomAD rs1446300469
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.11
- CADD 18.60
- PolyPhen-2 0.39
- SIFT 0.55
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available