P5S (p.Pro5Ser) variant of SPTBN4 (Q9H254)
P5S (p.Pro5Ser) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- gnomAD 19-40472634-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- MetaLR 0.22
- MetaSVM -0.69
- CADD 15.90
- PolyPhen-2 0.08
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available