L141P (p.Leu141Pro) variant of ETV5 (ETS translocation variant 5)
L141P (p.Leu141Pro) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
L141P (p.Leu141Pro) variant details
- p.Leu141Pro
- cosmic curated COSV60505
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.18
- CADD 25.80
- PolyPhen-2 0.51
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 4.5e-05)