R54* (p.Arg54Ter) variant of SETD5 (Q9C0A6)
R54* (p.Arg54Ter) in SETD5 (Q9C0A6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R54* (p.Arg54Ter) variant details
- p.Arg54Ter
- cosmic curated COSV56709
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available