R54R (p.Arg54Arg) variant of SETD5 (Q9C0A6)
R54R (p.Arg54Arg) in SETD5 (Q9C0A6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R54R (p.Arg54Arg) variant details
- p.Arg54Arg
- gnomAD 3-9433933-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 11.90
- Population evidence available
- Structural context available
- Literature evidence available