L58F (p.Leu58Phe) variant of ETV1 (ETS translocation variant 1)
L58F (p.Leu58Phe) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L58F (p.Leu58Phe) variant details
- p.Leu58Phe
- gnomAD rs1209187179
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.36
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available