P133S (p.Pro133Ser) variant of ETV5 (ETS translocation variant 5)
P133S (p.Pro133Ser) 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 0.46 / 1. The record also includes population frequency data.
P133S (p.Pro133Ser) variant details
- p.Pro133Ser
- TOPMed rs868275534
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.24
- CADD 23.50
- PolyPhen-2 0.82
- SIFT 0.38
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0016)