G633D (p.Gly633Asp) variant of COL17A1 (Collagen alpha-1(XVII) chain)
G633D (p.Gly633Asp) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolysis bullosa, junctional 4, intermediate. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature.
G633D (p.Gly633Asp) variant details
- p.Gly633Asp
- rs121912773
- ClinGen CA258054
- ClinVar RCV002279930
- UniProt VAR 017599
- Pathogenic
- Epidermolysis bullosa, junctional 4, intermediate
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Epidermolysis bullosa, junctional 4, intermediate)
- EBI: Pathogenic (in JEB4)
- UniProt: Pathogenic (in JEB4)
- Cited in: Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain. (PMID 10951237)
- Cited in: Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15. (PMID 10652291)