V40A (p.Val40Ala) variant of TTR (Transthyretin)
V40A (p.Val40Ala) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Amyloidosis, hereditary systemic 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V40A (p.Val40Ala) variant details
- p.Val40Ala
- rs1258875883
- ClinGen CA402156634
- ClinVar RCV003084912
- ClinVar RCV006434529
- Likely pathogenic
- Amyloidosis, hereditary systemic 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.66
- MetaLR 0.87
- MetaSVM 0.77
- CADD 23.10
- PolyPhen-2 0.97
- SIFT 0.06
- ClinVar: Likely pathogenic (Amyloidosis, hereditary systemic 1; not provided)
- EBI: Likely pathogenic (in AMYLD1)
- UniProt: Likely pathogenic (in AMYLD1)
- Population evidence available
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)