S18A (p.Ser18Ala) variant of TTR (Transthyretin)
S18A (p.Ser18Ala) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S18A (p.Ser18Ala) variant details
- p.Ser18Ala
- rs730881172
- ClinGen CA297548
- ClinVar RCV000159440
- ClinVar RCV005404297
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.26
- MetaLR 0.80
- MetaSVM 0.43
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available