A45S (p.Ala45Ser) variant of TTR (Transthyretin)
A45S (p.Ala45Ser) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
A45S (p.Ala45Ser) variant details
- p.Ala45Ser
- rs104894664
- ClinGen CA402156682
- ClinVar RCV002387687
- Likely pathogenic
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 0.68
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.68
- ClinVar: Likely pathogenic (Cardiovascular phenotype)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available