P5T (p.Pro5Thr) variant of SPTBN4 (Q9H254)
P5T (p.Pro5Thr) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P5T (p.Pro5Thr) variant details
- p.Pro5Thr
- gnomAD rs1443500687
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 22.20
- PolyPhen-2 0.51
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 3.1e-05)
- Structural context available