R51R (p.Arg51Arg) variant of SPTBN4 (Q9H254)
R51R (p.Arg51Arg) in SPTBN4 (Q9H254) 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.
R51R (p.Arg51Arg) variant details
- p.Arg51Arg
- gnomAD 19-40472772-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 8.41
- Population evidence available
- Structural context available
- Literature evidence available