S100L (p.Ser100Leu) variant of ETV5 (ETS translocation variant 5)
S100L (p.Ser100Leu) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
S100L (p.Ser100Leu) variant details
- p.Ser100Leu
- cosmic curated COSV10440
- ExAC rs773508609
- TOPMed rs773508609
- gnomAD rs773508609
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.29
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.18
- Most common in the South Asian population (allele frequency 0.00021)