Q48K (p.Gln48Lys) variant of ETV1 (ETS translocation variant 1)
Q48K (p.Gln48Lys) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Q48K (p.Gln48Lys) variant details
- p.Gln48Lys
- gnomAD rs1782580479
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.46
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available