A23A (p.Ala23Ala) variant of SPTBN4 (Q9H254)
A23A (p.Ala23Ala) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A23A (p.Ala23Ala) variant details
- p.Ala23Ala
- rs1392898952
- gnomAD 19-40472690-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 3.13
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available