M12R (p.Met12Arg) variant of ETV1 (ETS translocation variant 1)
M12R (p.Met12Arg) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
M12R (p.Met12Arg) variant details
- p.Met12Arg
- ExAC rs753008700
- gnomAD rs753008700
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.17
- CADD 27.50
- PolyPhen-2 0.56
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available