S18T (p.Ser18Thr) variant of TTR (Transthyretin)
S18T (p.Ser18Thr) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S18T (p.Ser18Thr) variant details
- p.Ser18Thr
- gnomAD 18-31591954-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.16
- MetaLR 0.73
- MetaSVM 0.10
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available