C116G (p.Cys116Gly) variant of ETV5 (ETS translocation variant 5)
C116G (p.Cys116Gly) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
C116G (p.Cys116Gly) variant details
- p.Cys116Gly
- ExAC rs763691220
- gnomAD rs763691220
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.66
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)