A43A (p.Ala43Ala) variant of SPTBN4 (Q9H254)
A43A (p.Ala43Ala) 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.
A43A (p.Ala43Ala) variant details
- p.Ala43Ala
- rs777993962
- gnomAD 19-40472750-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0815
- CADD 0.12
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.045)
- Structural context available
- Literature evidence available