A44A (p.Ala44Ala) variant of SPTBN4 (Q9H254)
A44A (p.Ala44Ala) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A44A (p.Ala44Ala) variant details
- p.Ala44Ala
- gnomAD 19-40472753-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 5.83
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available