G13G (p.Gly13Gly) variant of SPTBN4 (Q9H254)
G13G (p.Gly13Gly) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G13G (p.Gly13Gly) variant details
- p.Gly13Gly
- rs2079898395
- gnomAD 19-40472660-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.675
- CADD 7.77
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available