V17A (p.Val17Ala) variant of TTR (Transthyretin)
V17A (p.Val17Ala) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V17A (p.Val17Ala) variant details
- p.Val17Ala
- rs1237121765
- ClinGen CA402156336
- ClinVar RCV001811868
- ClinVar RCV002343865
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.15
- MetaLR 0.71
- MetaSVM -0.25
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available