A42A (p.Ala42Ala) variant of SPTBN4 (Q9H254)
A42A (p.Ala42Ala) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A42A (p.Ala42Ala) variant details
- p.Ala42Ala
- rs777582272
- gnomAD 19-40472747-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0942
- CADD 1.91
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available