A23T (p.Ala23Thr) variant of SPTBN4 (Q9H254)
A23T (p.Ala23Thr) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- ExAC rs754448570
- gnomAD rs754448570
- Missense
- Variant Prioritization Score for Impact Estimate 0.0765
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available