S18P (p.Ser18Pro) variant of TTR (Transthyretin)
S18P (p.Ser18Pro) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S18P (p.Ser18Pro) variant details
- p.Ser18Pro
- gnomAD 18-31591954-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.65
- MetaLR 0.85
- MetaSVM 0.63
- CADD 23.20
- PolyPhen-2 0.47
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available