M12L (p.Met12Leu) variant of ETV1 (ETS translocation variant 1)
M12L (p.Met12Leu) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
M12L (p.Met12Leu) variant details
- p.Met12Leu
- cosmic curated COSV54152
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.12
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available