A39A (p.Ala39Ala) variant of SPTBN4 (Q9H254)
A39A (p.Ala39Ala) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A39A (p.Ala39Ala) variant details
- p.Ala39Ala
- rs371479246
- gnomAD 19-40472738-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0848
- CADD 0.58
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available