S27N (p.Ser27Asn) variant of ETV4 (ETS translocation variant 4)
S27N (p.Ser27Asn) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
S27N (p.Ser27Asn) variant details
- p.Ser27Asn
- TOPMed rs1971755655
- gnomAD rs1971755655
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.11
- CADD 22.70
- PolyPhen-2 0.53
- SIFT 0.58
- Most common in the REMAINING population (allele frequency 1.7e-05)