R50R (p.Arg50Arg) variant of SETD5 (Q9C0A6)
R50R (p.Arg50Arg) in SETD5 (Q9C0A6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R50R (p.Arg50Arg) variant details
- p.Arg50Arg
- rs760862130
- gnomAD 3-9429951-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 21.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available