S27T (p.Ser27Thr) variant of SPTBN4 (Q9H254)
S27T (p.Ser27Thr) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and published literature.
S27T (p.Ser27Thr) variant details
- p.Ser27Thr
- gnomAD 19-40472701-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- MetaLR 0.38
- MetaSVM -0.53
- CADD 23.20
- PolyPhen-2 0.88
- SIFT 0.45
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available