R4R (p.Arg4Arg) variant of PURA (Q00577)
R4R (p.Arg4Arg) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R4R (p.Arg4Arg) variant details
- p.Arg4Arg
- gnomAD 5-140114191-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 15.10
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available
- Literature evidence available