A44T (p.Ala44Thr) variant of SPTBN4 (Q9H254)
A44T (p.Ala44Thr) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- cosmic curated COSV99078
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 22.50
- PolyPhen-2 0.43
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available