M11T (p.Met11Thr) variant of SPTBN4 (Q9H254)
M11T (p.Met11Thr) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
M11T (p.Met11Thr) variant details
- p.Met11Thr
- gnomAD 19-40472653-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- MetaLR 0.33
- MetaSVM -0.33
- CADD 23.20
- PolyPhen-2 0.26
- SIFT 0.23
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available