M12I (p.Met12Ile) variant of ETV5 (ETS translocation variant 5)
M12I (p.Met12Ile) in ETV5 (ETS translocation variant 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
M12I (p.Met12Ile) variant details
- p.Met12Ile
- rs2473962227
- ClinGen CA355845539
- ClinVar RCV004107453
- NCI-TCGA TCGA novel
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.13
- CADD 23.00
- PolyPhen-2 0.30
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)