C53R (p.Cys53Arg) variant of SETD5 (Q9C0A6)
C53R (p.Cys53Arg) in SETD5 (Q9C0A6) 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, published literature, and structural context.
C53R (p.Cys53Arg) variant details
- p.Cys53Arg
- gnomAD 3-9429879-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 22.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available