S129C (p.Ser129Cys) variant of ETV5 (ETS translocation variant 5)
S129C (p.Ser129Cys) in ETV5 (ETS translocation variant 5) 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 0.40 / 1. The record also includes population frequency data.
S129C (p.Ser129Cys) variant details
- p.Ser129Cys
- rs780967082
- ClinGen CA2742648
- ClinVar RCV004383178
- ExAC rs780967082
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.12
- CADD 25.90
- PolyPhen-2 0.67
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 8.6e-05)