V50A (p.Val50Ala) variant of TTR (Transthyretin)
V50A (p.Val50Ala) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
V50A (p.Val50Ala) variant details
- p.Val50Ala
- rs79977247
- ClinGen CA256810
- ClinVar RCV000014372
- UniProt VAR 007552
- Pathogenic
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.52
- MetaLR 0.91
- MetaSVM 1.17
- PolyPhen-2 0.43
- SIFT 0.02
- EVE 0.23
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of… (PMID 1544214)
- Cited in: Genetic microheterogeneity of human transthyretin detected by IEF. (PMID 17503405)