P44S (p.Pro44Ser) variant of TTR (Transthyretin)
P44S (p.Pro44Ser) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P44S (p.Pro44Ser) variant details
- p.Pro44Ser
- rs11541790
- ClinGen CA297519
- ClinVar RCV000159421
- ClinVar RCV000560691
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.06
- CADD 23.70
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Amyloidosis, hereditary)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Population evidence available
- Structural context available
- Cited in: Genetic microheterogeneity of human transthyretin detected by IEF. (PMID 17503405)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)