G15V (p.Gly15Val) variant of ETV5 (ETS translocation variant 5)
G15V (p.Gly15Val) 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 0.42 / 1. The record also includes population frequency data.
G15V (p.Gly15Val) variant details
- p.Gly15Val
- ExAC rs777457522
- TOPMed rs777457522
- gnomAD rs777457522
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.18
- CADD 23.20
- PolyPhen-2 0.10
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)