S127P (p.Ser127Pro) variant of ETV4 (ETS translocation variant 4)
S127P (p.Ser127Pro) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
S127P (p.Ser127Pro) variant details
- p.Ser127Pro
- rs776054019
- ClinGen CA8592375
- cosmic curated COSV60045
- ClinVar RCV004223668
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.06
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)