S45R (p.Ser45Arg) variant of SPTBN4 (Q9H254)
S45R (p.Ser45Arg) in SPTBN4 (Q9H254) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S45R (p.Ser45Arg) variant details
- p.Ser45Arg
- gnomAD 19-40472751-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 24.50
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available