V40I (p.Val40Ile) variant of TTR (Transthyretin)
V40I (p.Val40Ile) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V40I (p.Val40Ile) variant details
- p.Val40Ile
- rs121918093
- ClinGen CA256849
- ClinVar RCV000014397
- ClinVar RCV000159420
- Pathogenic
- Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.70
- MetaLR 0.94
- MetaSVM 1.07
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: 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: A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes… (PMID 8692810)