P140R (p.Pro140Arg) variant of ETV5 (ETS translocation variant 5)
P140R (p.Pro140Arg) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
P140R (p.Pro140Arg) variant details
- p.Pro140Arg
- TOPMed rs1713894354
- gnomAD rs1713894354
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.43
- CADD 25.80
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)