P15T (p.Pro15Thr) variant of SPTBN4 (Q9H254)
P15T (p.Pro15Thr) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P15T (p.Pro15Thr) variant details
- p.Pro15Thr
- gnomAD 19-40472664-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- MetaLR 0.20
- MetaSVM -0.90
- CADD 7.82
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available