S100P (p.Ser100Pro) variant of ETV5 (ETS translocation variant 5)
S100P (p.Ser100Pro) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
S100P (p.Ser100Pro) variant details
- p.Ser100Pro
- cosmic curated COSV10511
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.31
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)