A2A (p.Ala2Ala) variant of SPTBN4 (Q9H254)
A2A (p.Ala2Ala) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs780717203
- gnomAD 19-40472627-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0975
- CADD 2.38
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available
- Literature evidence available