P21T (p.Pro21Thr) variant of SPTBN4 (Q9H254)
P21T (p.Pro21Thr) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- ExAC rs762129766
- TOPMed rs762129766
- gnomAD rs762129766
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 15.90
- PolyPhen-2 0.06
- SIFT 0.36
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available