A22A (p.Ala22Ala) variant of SPTBN4 (Q9H254)
A22A (p.Ala22Ala) 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.
A22A (p.Ala22Ala) variant details
- p.Ala22Ala
- gnomAD 19-40472687-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0834
- CADD 0.39
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available