L50I (p.Leu50Ile) variant of ETV1 (ETS translocation variant 1)
L50I (p.Leu50Ile) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L50I (p.Leu50Ile) variant details
- p.Leu50Ile
- cosmic curated COSV54150
- gnomAD rs1782579541
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.40
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available