G26S (p.Gly26Ser) variant of TTR (Transthyretin)
G26S (p.Gly26Ser) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Carpal tunnel syndrome 1; Hyperthyroxinemia, dystransthyretinemic; Amyloidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G26S (p.Gly26Ser) variant details
- p.Gly26Ser
- rs1800458
- ClinGen CA123106
- ClinVar RCV000036379
- ClinVar RCV000250966
- Benign/Likely benign
- Carpal tunnel syndrome 1; Hyperthyroxinemia, dystransthyretinemic; Amyloidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.17
- MetaLR 0.08
- MetaSVM -0.84
- CADD 6.98
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (Carpal tunnel syndrome 1; Hyperthyroxinemia, dystransthyretinemi)
- EBI: Benign (in dbSNP:rs1800458)
- UniProt: Benign (in dbSNP:rs1800458)
- Population evidence available
- Structural context available
- Cited in: A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient. (PMID 10211412)
- Cited in: Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping… (PMID 11866053)