S20T (p.Ser20Thr) variant of ETV4 (ETS translocation variant 4)
S20T (p.Ser20Thr) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
S20T (p.Ser20Thr) variant details
- p.Ser20Thr
- TOPMed rs915790708
- gnomAD rs915790708
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.07
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the REMAINING population (allele frequency 0.00048)