A39T (p.Ala39Thr) variant of SPTBN4 (Q9H254)
A39T (p.Ala39Thr) in SPTBN4 (Q9H254) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- ESP rs201023290
- ExAC rs201023290
- TOPMed rs201023290
- gnomAD rs201023290
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 8.64
- PolyPhen-2 0.00
- SIFT 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available