G44T (p.Gly44Thr) variant of KRT3 (Keratin, type II cytoskeletal 3)
G44T (p.Gly44Thr) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital hereditary endothelial dystrophy of cornea. The record also includes structural context.
G44T (p.Gly44Thr) variant details
- p.Gly44Thr
- rs1939636114
- ClinGen CA2036681093
- ClinVar RCV001293776
- Ensembl rs1939636114
- Uncertain significance
- Congenital hereditary endothelial dystrophy of cornea
- Missense
- ClinVar: Uncertain significance (Congenital hereditary endothelial dystrophy of cornea)
- EBI: Variant of uncertain significance (in dbSNP:rs28721426)
- UniProt: Uncertain significance (in dbSNP:rs28721426)
- Structural context available