P5P (p.Pro5Pro) variant of SPTBN4 (Q9H254)
P5P (p.Pro5Pro) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P5P (p.Pro5Pro) variant details
- p.Pro5Pro
- gnomAD 19-40472636-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.60
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available