A39V (p.Ala39Val) variant of TTR (Transthyretin)
A39V (p.Ala39Val) in TTR (Transthyretin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- Ensembl rs11541795
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.71
- AlphaMissense 0.90
- MetaLR 0.93
- MetaSVM 1.07
- CADD 23.50
- PolyPhen-2 0.99
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available