M12V (p.Met12Val) variant of ETV1 (ETS translocation variant 1)
M12V (p.Met12Val) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
M12V (p.Met12Val) variant details
- p.Met12Val
- ExAC rs757988982
- TOPMed rs757988982
- gnomAD rs757988982
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.11
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.39
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available