A16T (p.Ala16Thr) variant of SPTBN4 (Q9H254)
A16T (p.Ala16Thr) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- gnomAD rs1239957764
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available