P35L (p.Pro35Leu) variant of ETV4 (ETS translocation variant 4)
P35L (p.Pro35Leu) 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 0.39 / 1. The record also includes population frequency data.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- TOPMed rs922360313
- gnomAD rs922360313
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.14
- CADD 23.30
- PolyPhen-2 0.15
- SIFT 0.22
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)