S97A (p.Ser97Ala) variant of ETV5 (ETS translocation variant 5)
S97A (p.Ser97Ala) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
S97A (p.Ser97Ala) variant details
- p.Ser97Ala
- ExAC rs774972931
- gnomAD rs774972931
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.06
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)