V40L (p.Val40Leu) variant of TTR (Transthyretin)
V40L (p.Val40Leu) in TTR (Transthyretin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AMYLD1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
V40L (p.Val40Leu) variant details
- p.Val40Leu
- TOPMed rs121918093
- gnomAD rs121918093
- Pathogenic
- in AMYLD1
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.73
- MetaLR 0.94
- MetaSVM 1.06
- CADD 24.30
- PolyPhen-2 0.96
- SIFT 0.06
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Population evidence available
- Structural context available