P28Q (p.Pro28Gln) variant of SPTBN4 (Q9H254)
P28Q (p.Pro28Gln) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
P28Q (p.Pro28Gln) variant details
- p.Pro28Gln
- gnomAD 19-40472704-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- MetaLR 0.50
- MetaSVM -0.07
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available