R30R (p.Arg30Arg) variant of SPTBN4 (Q9H254)
R30R (p.Arg30Arg) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R30R (p.Arg30Arg) variant details
- p.Arg30Arg
- rs770792509
- gnomAD 19-40472709-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 12.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available