R24R (p.Arg24Arg) variant of SPTBN4 (Q9H254)
R24R (p.Arg24Arg) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R24R (p.Arg24Arg) variant details
- p.Arg24Arg
- rs2079899176
- gnomAD 19-40472693-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 9.43
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available