A54A (p.Ala54Ala) variant of SPTBN4 (Q9H254)
A54A (p.Ala54Ala) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A54A (p.Ala54Ala) variant details
- p.Ala54Ala
- gnomAD 19-40472783-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 12.00
- Most common in the REMAINING population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available