Y136S (p.Tyr136Ser) variant of TTR (Transthyretin)
Y136S (p.Tyr136Ser) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Y136S (p.Tyr136Ser) variant details
- p.Tyr136Ser
- rs730881167
- ClinGen CA297535
- ClinVar RCV000223926
- ClinVar RCV003514317
- Likely pathogenic
- not provided; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.90
- MetaLR 0.96
- MetaSVM 1.06
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided; Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Population evidence available
- Structural context available
- Cited in: New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy. Mutations in brief… (PMID 10627135)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)