L45P (p.Leu45Pro) variant of ETV4 (ETS translocation variant 4)
L45P (p.Leu45Pro) 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 0.35 / 1. The record also includes population frequency data.
L45P (p.Leu45Pro) variant details
- p.Leu45Pro
- TOPMed rs1321827051
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.13
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)