P28P (p.Pro28Pro) variant of SPTBN4 (Q9H254)
P28P (p.Pro28Pro) 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.
P28P (p.Pro28Pro) variant details
- p.Pro28Pro
- gnomAD 19-40472705-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0908
- CADD 1.44
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available