G26C (p.Gly26Cys) variant of TTR (Transthyretin)
G26C (p.Gly26Cys) in TTR (Transthyretin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G26C (p.Gly26Cys) variant details
- p.Gly26Cys
- 1000Genomes rs1800458
- ESP rs1800458
- ExAC rs1800458
- TOPMed rs1800458
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.32
- MetaLR 0.84
- MetaSVM 0.41
- CADD 19.60
- PolyPhen-2 0.80
- SIFT 0.16
- EBI: Benign (in dbSNP:rs1800458)
- UniProt: Benign (in dbSNP:rs1800458)
- Population evidence available
- Structural context available