V4I (p.Val4Ile) variant of SPTBN4 (Q9H254)
V4I (p.Val4Ile) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V4I (p.Val4Ile) variant details
- p.Val4Ile
- ExAC rs769325922
- gnomAD rs769325922
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 9.52
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available