L117P (p.Leu117Pro) variant of ETV5 (ETS translocation variant 5)
L117P (p.Leu117Pro) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
L117P (p.Leu117Pro) variant details
- p.Leu117Pro
- ExAC rs755799638
- gnomAD rs755799638
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.60
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the HGDP:BIAKA population (allele frequency 0.023)