D9D (p.Asp9Asp) variant of SPTBN4 (Q9H254)
D9D (p.Asp9Asp) 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.
D9D (p.Asp9Asp) variant details
- p.Asp9Asp
- rs2079898117
- gnomAD 19-40472648-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 10.10
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available