P133S (p.Pro133Ser) variant of ETV4 (ETS translocation variant 4)
P133S (p.Pro133Ser) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from ClinVar 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 0.21 / 1. The record also includes population frequency data.
P133S (p.Pro133Ser) variant details
- p.Pro133Ser
- 1000Genomes rs566318920
- ExAC rs566318920
- TOPMed rs566318920
- gnomAD rs566318920
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.04
- CADD 23.20
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)